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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Brain Diseases, Metabolic, Inborn (D020739)
Parent Node: Hair Diseases (D006201)
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
Parent Node: Mental Retardation, X-Linked (D038901)
Parent Node: Metal Metabolism, Inborn Errors (D008664)
..Starting node ..Menkes Kinky Hair Syndrome (D007706)
Child Nodes:
........Hair defect with photosensitivity and mental retardation (C537628)
Sister Nodes:
..Congenital atransferrinemia (C538259)
..Copper Toxicosis, Idiopathic (C565846)
..Hemochromatosis (D006432) 6
..Hepatolenticular Degeneration (D006527) 2
..Hyperzincemia and Hypercalprotectinemia (C565988)
..Hyperzincemia with Functional Zinc Depletion (C566595)
..Hypophosphatasia (D007014) 5
..Hypophosphatemia, Familial (D007015) 11
..Menkes Kinky Hair Syndrome (D007706) 1
..Molybdenum cofactor deficiency (C535811)
..Molybdenum Cofactor Deficiency, Complementation Group A (C565372)
..Molybdenum Cofactor Deficiency, Complementation Group B (C565373)
..Molybdenum Cofactor Deficiency, Complementation Group C (C565374)
..Paralyses, Familial Periodic (D010245) 7
..Pseudohypoparathyroidism (D011547) 6
..Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc (C564286)
..ZINC, ELEVATED PLASMA (OMIM:194470)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6960

Name:

Menkes Kinky Hair Syndrome

Definition:

An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)

Alternative IDs:

OMIM:309400

ParentIDs:

MESH:D006201|MESH:D008664|MESH:D020271|MESH:D020739|MESH:D038901

TreeNumbers:

C10.228.140.163.100.540 |C10.574.500.540 |C10.597.606.643.455.687 |C16.320.322.500.687 |C16.320.400.520 |C16.320.400.525.687 |C16.320.565.189.540 |C16.320.565.618.590 |C17.800.329.968 |C18.452.132.100.540 |C18.452.648.189.540 |C18.452.648.618.590

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease|Skin disease

Reference:

MedGen: D007706
MeSH: D007706
OMIM: 309400;

Genes: ATP7A;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0000271	Abnormality of the face
3	HP:0000248	Brachycephaly
4	HP:0000973	Cutis laxa
5	HP:0003819	Death in childhood
6	HP:0001276	Hypertonia
7	HP:0001010	Hypopigmentation of the skin
8	HP:0002045	Hypothermia
9	HP:0001249	Intellectual disability
10	HP:0002170	Intracranial hemorrhage
11	HP:0001511	Intrauterine growth retardation
12	HP:0001388	Joint laxity
13	HP:0005054	Metaphyseal spurs
14	HP:0003016	Metaphyseal widening
15	HP:0000252	Microcephaly
16	HP:0000939	Osteoporosis
17	HP:0001250	Seizure
18	HP:0004322	Short stature
19	HP:0008070	Sparse hair
20	HP:0002645	Wormian bones

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000052.6(ATP7A):c.421_422delGA (p.Glu141Alafs)	538	ATP7A	Pathogenic	797045397	RCV000195012;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77244038	77244039	NM_000052.6:c.421_422delGA	NP_000043.4:p.Glu141Alafs	NC_000023.10:g.77244038_77244039delGA	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.598C>T (p.Gln200Ter)	538	ATP7A	Pathogenic	797045399	RCV000194247;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77244215	77244215	NM_000052.6:c.598C>T	NP_000043.4:p.Gln200Ter	NC_000023.10:g.77244215C>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.601C>T (p.Arg201Ter)	538	ATP7A	Pathogenic	151340633	RCV000012560;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77244218	77244218	NM_000052.6:c.601C>T	NP_000043.4:p.Arg201Ter	NC_000023.10:g.77244218C>T	OMIM Allelic Variant:300011.0014	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.876delG (p.Ser293Glnfs)	538	ATP7A	Pathogenic	797045400	RCV000193287;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77244994	77244994	NM_000052.6:c.876delG	NP_000043.4:p.Ser293Glnfs	NC_000023.10:g.77244994delG	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1006G>T (p.Glu336Ter)	538	ATP7A	Pathogenic	797045325	RCV000194386;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77245124	77245124	NM_000052.6:c.1006G>T	NP_000043.4:p.Glu336Ter	NC_000023.10:g.77245124G>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1020_1024dupGGGGC (p.Leu342Argfs)	538	ATP7A	Pathogenic	797045327	RCV000193458;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77245138	77245142	NM_000052.6:c.1020_1024dupGGGGC	NP_000043.4:p.Leu342Argfs	NC_000023.10:g.77245138_77245142dupGGGGC	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1225C>T (p.Arg409Ter)	538	ATP7A	Pathogenic	72554636	RCV000194461;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77245343	77245343	NM_000052.6:c.1225C>T	NP_000043.4:p.Arg409Ter	NC_000023.10:g.77245343C>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1355delT (p.Val452Glufs)	538	ATP7A	Pathogenic	797045329	RCV000193526;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77253993	77253993	NM_000052.6:c.1355delT	NP_000043.4:p.Val452Glufs	NC_000023.10:g.77253993delT	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1460C>A (p.Ser487Ter)	538	ATP7A	Pathogenic	797045330	RCV000194569;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77254098	77254098	NM_000052.6:c.1460C>A	NP_000043.4:p.Ser487Ter	NC_000023.10:g.77254098C>A	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1544-1G>A	538	ATP7A	Pathogenic	797045331	RCV000193686;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77258569	77258569	NM_000052.6:c.1544-1G>A		NC_000023.10:g.77258569G>A	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1639C>T (p.Arg547Ter)	538	ATP7A	Pathogenic	797045332	RCV000194736;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77258665	77258665	NM_000052.6:c.1639C>T	NP_000043.4:p.Arg547Ter	NC_000023.10:g.77258665C>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1667_1668delTA (p.Ile556Argfs)	538	ATP7A	Pathogenic	797045333	RCV000192761;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77258693	77258694	NM_000052.6:c.1667_1668delTA	NP_000043.4:p.Ile556Argfs	NC_000023.10:g.77258693_77258694delTA	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1782C>G (p.Tyr594Ter)	538	ATP7A	Pathogenic	797045336	RCV000192830;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77264673	77264673	NM_000052.6:c.1782C>G	NP_000043.4:p.Tyr594Ter	NC_000023.10:g.77264673C>G	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1831G>T (p.Glu611Ter)	538	ATP7A	Pathogenic	797045337	RCV000193862;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77264722	77264722	NM_000052.6:c.1831G>T	NP_000043.4:p.Glu611Ter	NC_000023.10:g.77264722G>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1870-1G>C	538	ATP7A	Pathogenic	797045338	RCV000195126;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77266672	77266672	NM_000052.6:c.1870-1G>C		NC_000023.10:g.77266672G>C	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1874T>G (p.Leu625Ter)	538	ATP7A	Pathogenic	797045339	RCV000193177;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77266677	77266677	NM_000052.6:c.1874T>G	NP_000043.4:p.Leu625Ter	NC_000023.10:g.77266677T>G	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1885G>C (p.Ala629Pro)	538	ATP7A	Likely pathogenic	72554639	RCV000194213;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77266688	77266688	NM_000052.6:c.1885G>C	NP_000043.4:p.Ala629Pro	NC_000023.10:g.77266688G>C	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1910C>T (p.Ser637Leu)	538	ATP7A	Pathogenic	151340631	RCV000012549; RCV000195239;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007; MedGen:C0268353,OMIM:304150,ORPHA:198,SNOMED CT:59399004	X	77266713	77266713	NM_000052.6:c.1910C>T	NP_000043.4:p.Ser637Leu	NC_000023.10:g.77266713C>T	OMIM Allelic Variant:300011.0003	C0268353 304150 Cutis laxa, X-linked; C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1933C>T (p.Arg645Ter)	538	ATP7A	Pathogenic	72554640	RCV000193235;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77266736	77266736	NM_000052.6:c.1933C>T	NP_000043.4:p.Arg645Ter	NC_000023.10:g.77266736C>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1946+1G>C	538	ATP7A	Pathogenic	797045340	RCV000194275;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77266750	77266750	NM_000052.6:c.1946+1G>C		NC_000023.10:g.77266750G>C	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1946+5G>A	538	ATP7A	Pathogenic	797045341	RCV000192316;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77266754	77266754	NM_000052.6:c.1946+5G>A		NC_000023.10:g.77266754G>A	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1947-1G>A	538	ATP7A	Pathogenic	794729231	RCV000184052;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77266945	77266945	NM_000052.6:c.1947-1G>A		NW_003871101.3:g.568710G>A	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1947-1G>C	538	ATP7A	Pathogenic	794729231	RCV000193718;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77266945	77266945	NM_000052.6:c.1947-1G>C		NC_000023.10:g.77266945G>A,NC_000023.10:g.77266945G>C	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1950G>A (p.Trp650Ter)	538	ATP7A	Pathogenic	797045342	RCV000194429;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77266949	77266949	NM_000052.6:c.1950G>A	NP_000043.4:p.Trp650Ter	NC_000023.10:g.77266949G>A	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1978_2008dup31 (p.Tyr670Phefs)	538	ATP7A	Pathogenic	797045343	RCV000192463;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77266977	77267007	NM_000052.6:c.1978_2008dup31	NP_000043.4:p.Tyr670Phefs	NC_000023.10:g.77266977_77267007dup31	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1996G>A (p.Gly666Arg)	538	ATP7A	Likely pathogenic	797045344	RCV000193497;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77266995	77266995	NM_000052.6:c.1996G>A	NP_000043.4:p.Gly666Arg	NC_000023.10:g.77266995G>A,NC_000023.10:g.77266995G>C	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.1996G>C (p.Gly666Arg)	538	ATP7A	Pathogenic	797045344	RCV000194915;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77266995	77266995	NM_000052.6:c.1996G>C	NP_000043.4:p.Gly666Arg	NC_000023.10:g.77266995G>A,NC_000023.10:g.77266995G>C	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2160T>A (p.Cys720Ter)	538	ATP7A	Pathogenic	797045346	RCV000193010;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77267159	77267159	NM_000052.6:c.2160T>A	NP_000043.4:p.Cys720Ter	NC_000023.10:g.77267159T>A	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2172G>T (p.Gln724His)	538	ATP7A	Likely pathogenic	797045348	RCV000194586;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77267171	77267171	NM_000052.6:c.2172G>T	NP_000043.4:p.Gln724His	NC_000023.10:g.77267171G>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2172+5G>C	538	ATP7A	Pathogenic	797045347	RCV000193917;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77267176	77267176	NM_000052.6:c.2172+5G>C		NC_000023.10:g.77267176G>C	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2173-2A>G	538	ATP7A	Pathogenic	797045349	RCV000192993;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77268374	77268374	NM_000052.6:c.2173-2A>G		NC_000023.10:g.77268374A>G	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2179G>A (p.Gly727Arg)	538	ATP7A	Pathogenic	72554644	RCV000193991;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77268382	77268382	NM_000052.6:c.2179G>A	NP_000043.4:p.Gly727Arg	NC_000023.10:g.77268382G>A,NC_000023.10:g.77268382G>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2179G>T (p.Gly727Ter)	538	ATP7A	Pathogenic	72554644	RCV000195017;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77268382	77268382	NM_000052.6:c.2179G>T	NP_000043.4:p.Gly727Ter	NC_000023.10:g.77268382G>A,NC_000023.10:g.77268382G>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2183G>A (p.Gly728Asp)	538	ATP7A	Likely pathogenic	797045350	RCV000193058;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77268386	77268386	NM_000052.6:c.2183G>A	NP_000043.4:p.Gly728Asp	NC_000023.10:g.77268386G>A	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2187G>A (p.Trp729Ter)	538	ATP7A	Pathogenic	797045351	RCV000194105;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77268390	77268390	NM_000052.6:c.2187G>A	NP_000043.4:p.Trp729Ter	NC_000023.10:g.77268390G>A	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2248_2251dupATTG (p.Val751Aspfs)	538	ATP7A	Pathogenic	797045352	RCV000195170;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77268451	77268454	NM_000052.6:c.2248_2251dupATTG	NP_000043.4:p.Val751Aspfs	NC_000023.10:g.77268451_77268454dupATTG	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2302delG (p.Ala768Glnfs)	538	ATP7A	Pathogenic	797045353	RCV000194263;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77268505	77268505	NM_000052.6:c.2302delG	NP_000043.4:p.Ala768Glnfs	NC_000023.10:g.77268505delG	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2357T>G (p.Met786Arg)	538	ATP7A	Pathogenic	797045354	RCV000192663;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77268560	77268560	NM_000052.6:c.2357T>G	NP_000043.4:p.Met786Arg	NC_000023.10:g.77268560T>G	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2383C>T (p.Arg795Ter)	538	ATP7A	Pathogenic	72554645	RCV000193280;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77268586	77268586	NM_000052.6:c.2383C>T	NP_000043.4:p.Arg795Ter	NC_000023.10:g.77268586C>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2395_2405delCATATAGCAAAinsAGCATC (p.His799Serfs)	538	ATP7A	Pathogenic	797045355	RCV000194331;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77268598	77268608	NM_000052.6:c.2395_2405delCATATAGCAAAinsAGCATC	NP_000043.4:p.His799Serfs	NC_000023.10:g.77268598_77268608delCATATAGCAAAinsAGCATC	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2405_2406+1delinsT	538	ATP7A	Pathogenic	797045356	RCV000192361;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77268608	77268610	NM_000052.6:c.2405_2406+1delinsT		NC_000023.10:g.77268608_77268610delAGGinsT	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2498+2T>A	538	ATP7A	Pathogenic	797045357	RCV000194674;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77270252	77270252	NM_000052.6:c.2498+2T>A		NC_000023.10:g.77270252T>A	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2499-1G>A	538	ATP7A	Pathogenic	797045359	RCV000193736;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77271250	77271250	NM_000052.6:c.2499-1G>A		NC_000023.10:g.77271250G>A	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2499-1_2504dupGTGAAGA	538	ATP7A	Pathogenic	797045358	RCV000192331;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77271250	77271256	NM_000052.6:c.2499-1_2504dupGTGAAGA		NC_000023.10:g.77271250_77271256dupGTGAAGA	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2555C>T (p.Pro852Leu)	538	ATP7A	Pathogenic	797045360	RCV000194783;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77271307	77271307	NM_000052.6:c.2555C>T	NP_000043.4:p.Pro852Leu	NC_000023.10:g.77271307C>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2645dupC (p.Lys883Terfs)	538	ATP7A	Pathogenic	797045361	RCV000192771;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77275759	77275759	NM_000052.6:c.2645dupC	NP_000043.4:p.Lys883Terfs	NC_000023.10:g.77275759dupC	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2750T>A (p.Val917Asp)	538	ATP7A	Likely pathogenic	797045362	RCV000193806;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77275864	77275864	NM_000052.6:c.2750T>A	NP_000043.4:p.Val917Asp	NC_000023.10:g.77275864T>A	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2781G>C (p.Lys927Asn)	538	ATP7A	Likely pathogenic	797045363	RCV000194847;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77275895	77275895	NM_000052.6:c.2781G>C	NP_000043.4:p.Lys927Asn	NC_000023.10:g.77275895G>C	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2903A>G (p.Glu968Gly)	538	ATP7A	Likely pathogenic	138958687	RCV000192884;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77276563	77276563	NM_000052.6:c.2903A>G	NP_000043.4:p.Glu968Gly	NC_000023.10:g.77276563A>G	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2916+3_2916+6del	538	ATP7A	Pathogenic	797045364	RCV000193969;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77276579	77276582	NM_000052.6:c.2916+3_2916+6del		NC_000023.10:g.77276579_77276582delAAGT	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2938C>T (p.Arg980Ter)	538	ATP7A	Pathogenic	72554649	RCV000012551;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77284768	77284768	NM_000052.6:c.2938C>T	NP_000043.4:p.Arg980Ter	NC_000023.10:g.77284768C>T	OMIM Allelic Variant:300011.0005	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.2956C>T (p.Arg986Ter)	538	ATP7A	Pathogenic	72554650	RCV000193405;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77284786	77284786	NM_000052.6:c.2956C>T	NP_000043.4:p.Arg986Ter	NC_000023.10:g.77284786C>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3002C>T (p.Pro1001Leu)	538	ATP7A	Likely pathogenic	797045365	RCV000194077;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77284832	77284832	NM_000052.6:c.3002C>T	NP_000043.4:p.Pro1001Leu	NC_000023.10:g.77284832C>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3056G>A (p.Gly1019Asp)	538	ATP7A	Pathogenic	72554652	RCV000012555;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77284886	77284886	NM_000052.6:c.3056G>A	NP_000043.4:p.Gly1019Asp	NC_000023.10:g.77284886G>A	OMIM Allelic Variant:300011.0009	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3068_3082delGCATACTAATAAAAG (p.Ile1024_Gly1028del)	538	ATP7A	Pathogenic	797045366	RCV000193101;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77284898	77284912	NM_000052.6:c.3068_3082delGCATACTAATAAAAG	NP_000043.4:p.Ile1024_Gly1028del	NC_000023.10:g.77284898_77284912delGCATACTAATAAAAG	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3112-1G>A	538	ATP7A	Pathogenic	797045367	RCV000194513;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77286897	77286897	NM_000052.6:c.3112-1G>A		NC_000023.10:g.77286897G>A	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3124delG (p.Val1042Tyrfs)	538	ATP7A	Pathogenic	797045368	RCV000192548;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77286910	77286910	NM_000052.6:c.3124delG	NP_000043.4:p.Val1042Tyrfs	NC_000023.10:g.77286910delG	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3127_3131delTTTGAinsAGTACAGG (p.Phe1043_Asp1044delinsSerThrGly)	538	ATP7A	Pathogenic	797045369	RCV000193069;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77286913	77286917	NM_000052.6:c.3127_3131delTTTGAinsAGTACAGG	NP_000043.4:p.Phe1043_Asp1044delinsSerThrGly	NC_000023.10:g.77286913_77286917delTTTGAinsAGTACAGG	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3132T>G (p.Asp1044Glu)	538	ATP7A	Pathogenic	797045370	RCV000194489;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77286918	77286918	NM_000052.6:c.3132T>G	NP_000043.4:p.Asp1044Glu	NC_000023.10:g.77286918T>G	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3152_3156delACGGAins4	538	ATP7A	Pathogenic	797045371	RCV000192522;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77286938	77286942	NM_000052.6:c.3152_3156delACGGAins4			-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3285T>G (p.Tyr1095Ter)	538	ATP7A	Pathogenic	797045372	RCV000193509;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77287071	77287071	NM_000052.6:c.3285T>G	NP_000043.4:p.Tyr1095Ter	NC_000023.10:g.77287071T>G	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3288C>A (p.Cys1096Ter)	538	ATP7A	Pathogenic	797045373	RCV000194181;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77287074	77287074	NM_000052.6:c.3288C>A	NP_000043.4:p.Cys1096Ter	NC_000023.10:g.77287074C>A	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3294+1G>T	538	ATP7A	Likely pathogenic	797045374	RCV000192588;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77287081	77287081	NM_000052.6:c.3294+1G>T		NC_000023.10:g.77287081G>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3340delG (p.Val1114Cysfs)	538	ATP7A	Pathogenic	797045375	RCV000193615;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77289148	77289148	NM_000052.6:c.3340delG	NP_000043.4:p.Val1114Cysfs	NC_000023.10:g.77289148delG	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3352G>T (p.Gly1118Cys)	538	ATP7A	Likely pathogenic	797045376	RCV000194716;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77289160	77289160	NM_000052.6:c.3352G>T	NP_000043.4:p.Gly1118Cys	NC_000023.10:g.77289160G>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3379G>T (p.Glu1127Ter)	538	ATP7A	Pathogenic	797045377	RCV000192748;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77289187	77289187	NM_000052.6:c.3379G>T	NP_000043.4:p.Glu1127Ter	NC_000023.10:g.77289187G>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3466C>T (p.Gln1156Ter)	538	ATP7A	Pathogenic	797045378	RCV000194826;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77289274	77289274	NM_000052.6:c.3466C>T	NP_000043.4:p.Gln1156Ter	NC_000023.10:g.77289274C>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3502C>T (p.Gln1168Ter)	538	ATP7A	Pathogenic	797045379	RCV000192813;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77289310	77289310	NM_000052.6:c.3502C>T	NP_000043.4:p.Gln1168Ter	NC_000023.10:g.77289310C>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3537delA (p.Val1180Serfs)	538	ATP7A	Pathogenic	797045380	RCV000195251;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77294359	77294359	NM_000052.6:c.3537delA	NP_000043.4:p.Val1180Serfs	NC_000023.10:g.77294359delA	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3764G>A (p.Gly1255Glu)	538	ATP7A	Pathogenic	797045382	RCV000193824;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77296194	77296194	NM_000052.6:c.3764G>A	NP_000043.4:p.Gly1255Glu	NC_000023.10:g.77296194G>A	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3774delTinsATGACTGG (p.Ser1258Argfs)	538	ATP7A	Pathogenic	797045383	RCV000195218;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77296204	77296204	NM_000052.6:c.3774delTinsATGACTGG	NP_000043.4:p.Ser1258Argfs	NC_000023.10:g.77296204delTinsATGACTGG	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3775_3776delAAinsTTAC (p.Lys1259Leufs)	538	ATP7A	Pathogenic	797045384	RCV000193268;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77296205	77296206	NM_000052.6:c.3775_3776delAAinsTTAC	NP_000043.4:p.Lys1259Leufs	NC_000023.10:g.77296205_77296206delAAinsTTAC	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3800A>T (p.Gln1267Leu)	538	ATP7A	Likely pathogenic	797045385	RCV000194316;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77296230	77296230	NM_000052.6:c.3800A>T	NP_000043.4:p.Gln1267Leu	NC_000023.10:g.77296230A>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3801+1G>T	538	ATP7A	Pathogenic	797045386	RCV000194924;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77296232	77296232	NM_000052.6:c.3801+1G>T		NC_000023.10:g.77296232G>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3801+4A>G	538	ATP7A	Likely pathogenic	797045387	RCV000193334;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77296235	77296235	NM_000052.6:c.3801+4A>G		NC_000023.10:g.77296235A>G	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3911A>G (p.Asn1304Ser)	538	ATP7A	Pathogenic	151340632	RCV000012559; RCV000194377;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007; MedGen:C0268353,OMIM:304150,ORPHA:198,SNOMED CT:59399004	X	77298192	77298192	NM_000052.6:c.3911A>G	NP_000043.4:p.Asn1304Ser	NC_000023.10:g.77298192A>G	OMIM Allelic Variant:300011.0013	C0268353 304150 Cutis laxa, X-linked; C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3920C>G (p.Pro1307Arg)	538	ATP7A	Pathogenic	797045388	RCV000192416;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77298201	77298201	NM_000052.6:c.3920C>G	NP_000043.4:p.Pro1307Arg	NC_000023.10:g.77298201C>G	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3920delC (p.Pro1307Glnfs)	538	ATP7A	Pathogenic	797045389	RCV000193484;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77298201	77298201	NM_000052.6:c.3920delC	NP_000043.4:p.Pro1307Glnfs	NC_000023.10:g.77298201delC	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.3943G>A (p.Gly1315Arg)	538	ATP7A	Pathogenic	797045390	RCV000192535;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77298224	77298224	NM_000052.6:c.3943G>A	NP_000043.4:p.Gly1315Arg	NC_000023.10:g.77298224G>A	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.4005+1G>T	538	ATP7A	Pathogenic	797045391	RCV000193560;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77298287	77298287	NM_000052.6:c.4005+1G>T		NC_000023.10:g.77298287G>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.4014_4016delTCT (p.Leu1339del)	538	ATP7A	Pathogenic	797045392	RCV000194645;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77298823	77298825	NM_000052.6:c.4014_4016delTCT	NP_000043.4:p.Leu1339del	NC_000023.10:g.77298823_77298825delTCT	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.4123G>A (p.Gly1375Arg)	538	ATP7A	Likely pathogenic	797045394	RCV000194717;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77298932	77298932	NM_000052.6:c.4123G>A	NP_000043.4:p.Gly1375Arg	NC_000023.10:g.77298932G>A	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.4123+1G>A	538	ATP7A	Pathogenic	797045393	RCV000193682;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77298933	77298933	NM_000052.6:c.4123+1G>A		NC_000023.10:g.77298933G>A	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.4132dupA (p.Met1378Asnfs)	538	ATP7A	Pathogenic	797045395	RCV000192966;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77300975	77300975	NM_000052.6:c.4132dupA	NP_000043.4:p.Met1378Asnfs	NC_000023.10:g.77300975dupA	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.4187C>T (p.Ser1396Leu)	538	ATP7A	Likely pathogenic	797045396	RCV000194001;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77301030	77301030	NM_000052.6:c.4187C>T	NP_000043.4:p.Ser1396Leu	NC_000023.10:g.77301030C>T	-	C0022716 309400 Menkes kinky-hair syndrome
NM_000052.6(ATP7A):c.4226+5G>A	538	ATP7A	Pathogenic	797045398	RCV000194120;	N	MedGen:C0022716,OMIM:309400,ORPHA:565,SNOMED CT:59178007	X	77301074	77301074	NM_000052.6:c.4226+5G>A		NC_000023.10:g.77301074G>A	-	C0022716 309400 Menkes kinky-hair syndrome