MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Optic Atrophies, Hereditary (D015418)
..Starting node ..Optic Atrophy 7 (C567833)
Child Nodes:
Sister Nodes:
..Berk-Tabatznik syndrome (C535432)
..Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
..Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy (C535642)
..Hagemoser Weinstein Bresnick syndrome (C537626)
..Konigsmark Knox Hussels syndrome (C537214)
..Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
..Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult (C563530)
..Optic atrophy 1 and deafness (C537124) L: 00657;
..OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES (OMIM:616732)
..OPTIC ATROPHY 11 (OMIM:617302)
..OPTIC ATROPHY 2 (OMIM:311050)
..Optic Atrophy 4 (C565343)
..Optic atrophy 5 (C537126)
..Optic atrophy 6 (C537127)
..Optic Atrophy 7 (C567833)
..OPTIC ATROPHY 9 (OMIM:616289)
..Optic atrophy and cataract, autosomal dominant (C537128)
..Optic atrophy polyneuropathy deafness (C537129)
..Optic Atrophy Spastic Paraplegia Syndrome (C564084)
..Optic Atrophy with Demyelinating Disease of CNS (C563496)
..Optic Atrophy with Negative Electroretinograms (C563494)
..Optic Atrophy, Autosomal Dominant (D029241) L: 00073;
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Optic Atrophy, Hereditary, Leber (D029242) 1 L: 00072; 00492;
..Senior Loken Syndrome (C537580)
..Senior-Loken Syndrome 3 (C564637)
..Senior-Loken Syndrome 5 (C563763)
..Senior-Loken Syndrome 6 (C565708)
..Spastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..Wolfram Syndrome (D014929) 1
..Wolfram Syndrome, Mitochondrial Form (C564012)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9147

Name:

Optic Atrophy 7

Definition:

Alternative IDs:

OMIM:612989

ParentIDs:

MESH:D015418

TreeNumbers:

C10.292.700.225.500/C567833 |C10.574.500.662/C567833 |C11.270.564/C567833 |C11.640.451.451/C567833 |C16.320.290.564/C567833 |C16.320.400.630/C567833

Synonyms:

OPA7 |OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY

Slim Mappings:

Eye disease|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C567833
MeSH: C567833
OMIM: 612989;
MSeqDR :
Genes: TMEM126A;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000603	Central scotoma	Childhood onset
3	HP:0001133	Constriction of peripheral visual field
4	HP:0007641	Dyschromatopsia
5	HP:0000666	Horizontal nystagmus	HP:0040283
6	HP:0001639	Hypertrophic cardiomyopathy NAMDC: Hypertrophic cardomyopathy	HP:0040283
7	HP:0000648	Optic atrophy
8	HP:0000543	Optic disc pallor
9	HP:0007663	Reduced visual acuity
10	HP:0000407	Sensorineural hearing impairment NAMDC: Sensorineural hearing loss	HP:0040283
11	HP:0000486	Strabismus	HP:0040283
12	HP:0003828	Variable expressivity
13	HP:0000505	Visual impairment	Childhood onset

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_032273.4(TMEM126A):c.-98C>G	84233	TMEM126A	Uncertain significance	rs2082473214	RCV001113193;	N	MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676	11	85359043	85359043	11:g.85359043C>G	-
NM_032273.4(TMEM126A):c.-69T>A	84233	TMEM126A	Benign	rs17148285	RCV000320832\|RCV001712017;	N	MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676\|MedGen:CN517202	11	85359072	85359072	11:g.85359072T>A	ClinGen:CA10635794	CN239221 Optic Atrophy, Recessive;
NM_032273.4(TMEM126A):c.-16G>C	84233	TMEM126A	Uncertain significance	rs548326357	RCV000282094;	N	MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676	11	85359125	85359125	11:g.85359125G>C	ClinGen:CA10631646	CN239221 Optic Atrophy, Recessive;
NM_032273.4(TMEM126A):c.20A>G (p.Asn7Ser)	84233	TMEM126A	Uncertain significance	rs768503384	RCV001113194\|RCV001856494;	N	MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676\|MedGen:CN517202	11	85361319	85361319	11:g.85361319A>G	-
NM_032273.4(TMEM126A):c.87G>C (p.Arg29Ser)	84233	TMEM126A	Uncertain significance	rs142717432	RCV000724291\|RCV001113195;	N	MedGen:CN517202\|MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676	11	85365107	85365107	11:g.85365107G>C	ClinGen:CA243562	CN169374 not specified;
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=)	84233	TMEM126A	Conflicting interpretations of pathogenicity	rs36100288	RCV000125526\|RCV000334757\|RCV000676591;	N	MedGen:CN169374\|MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676\|MedGen:CN517202	11	85365116	85365116	NC_000011.9:g.85365116T>G	ClinGen:CA291323	CN517202 not provided;
NM_032273.4(TMEM126A):c.154A>G (p.Ser52Gly)	84233	TMEM126A	Benign/Likely benign	rs140047528	RCV000177387\|RCV000401117\|RCV000890740;	N	MedGen:CN169374\|MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676\|MedGen:CN517202	11	85365174	85365174	11:g.85365174A>G	ClinGen:CA243560	CN169374 not specified;
NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter)	84233	TMEM126A	Pathogenic	rs121434508	RCV000000438\|RCV001699096;	N	MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676\|MedGen:CN517202	11	85365183	85365183	11:g.85365183C>T	ClinGen:CA114254,OMIM:612988.0001	C2751812 612989 Optic atrophy 7;
NM_032273.4(TMEM126A):c.191G>A (p.Arg64His)	84233	TMEM126A	Benign/Likely benign	rs11556797	RCV000125527\|RCV000625489\|RCV000676593;	N	MedGen:CN169374\|MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676\|MedGen:CN517202	11	85365211	85365211	NC_000011.9:g.85365211G>A	ClinGen:CA291325,UniProtKB:Q9H061#VAR_053817	CN517202 not provided;
NM_032273.4(TMEM126A):c.280+14C>T	84233	TMEM126A	Benign/Likely benign	rs117453673	RCV000197252\|RCV001114561\|RCV001511680;	N	MedGen:CN169374\|MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676\|MedGen:CN517202	11	85365314	85365314	NC_000011.9:g.85365314C>T	ClinGen:CA321694	CN169374 not specified;
NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln)	84233	TMEM126A	Conflicting interpretations of pathogenicity	rs146573578	RCV000676594\|RCV001114562;	N	MedGen:CN517202\|MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676	11	85366671	85366671	11:g.85366671G>A	ClinGen:CA245454	CN517202 not provided;
NM_032273.4(TMEM126A):c.329G>A (p.Gly110Asp)	84233	TMEM126A	Uncertain significance	-1	RCV002259426;	N	MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676	11	85366686	85366686	85366686	-
NM_032273.4(TMEM126A):c.368T>C (p.Ile123Thr)	84233	TMEM126A	Uncertain significance	rs999281366	RCV001114563;	N	MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676	11	85366725	85366725	11:g.85366725T>C	-
NM_032273.4(TMEM126A):c.385C>G (p.Leu129Val)	84233	TMEM126A	Conflicting interpretations of pathogenicity	rs546358774	RCV000154005\|RCV001114564;	N	MedGen:CN517202\|MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676	11	85366742	85366742	NC_000011.9:g.85366742C>G	ClinGen:CA234995	CN169374 not specified;
NM_032273.4(TMEM126A):c.395+5G>A	84233	TMEM126A	Benign/Likely benign	rs115906592	RCV000198457\|RCV000352120\|RCV000962203;	N	MedGen:CN169374\|MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676\|MedGen:CN517202	11	85366757	85366757	11:g.85366757G>A	ClinGen:CA322962	CN169374 not specified;
NM_032273.4(TMEM126A):c.395+10A>G	84233	TMEM126A	Benign	rs2196168	RCV000250500\|RCV000389999\|RCV000676595;	N	MedGen:CN169374\|MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676\|MedGen:CN517202	11	85366762	85366762	NC_000011.9:g.85366762A>G	ClinGen:CA6212778	CN517202 not provided;
NM_032273.4(TMEM126A):c.487A>G (p.Ile163Val)	84233	TMEM126A	Uncertain significance	rs886048713	RCV000312457\|RCV002522213;	N	MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676\|MedGen:CN517202	11	85367444	85367444	11:g.85367444A>G	ClinGen:CA10635795	CN239221 Optic Atrophy, Recessive;
NM_032273.4(TMEM126A):c.502A>G (p.Met168Val)	84233	TMEM126A	Uncertain significance	rs886048714	RCV000364617\|RCV002520775;	N	MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676\|MedGen:CN517202	11	85367459	85367459	11:g.85367459A>G	ClinGen:CA10639558	CN239221 Optic Atrophy, Recessive;
NM_032273.4(TMEM126A):c.562T>A (p.Ser188Thr)	84233	TMEM126A	Benign/Likely benign	rs34397695	RCV000125528\|RCV000391384\|RCV001519099;	N	MedGen:CN169374\|MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676\|MedGen:CN517202	11	85367519	85367519	NC_000011.9:g.85367519T>A	ClinGen:CA291327	CN169374 not specified;
NM_032273.4(TMEM126A):c.563C>A (p.Ser188Tyr)	84233	TMEM126A	Uncertain significance	rs2082541296	RCV001108930;	N	MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676	11	85367520	85367520	11:g.85367520C>A	-

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