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: Spinocerebellar Ataxias (D020754)
..Starting node ..Spinocerebellar ataxia 26 (C537203)
Child Nodes:
Sister Nodes:
..Anemia, sideroblastic spinocerebellar ataxia (C536358)
..Ataxia Telangiectasia (D001260) 6
..Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..Gemignani syndrome (C537678)
..Machado-Joseph Disease (D017827) 1
..MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245) L: 00036;
..Spastic Ataxia (C564815)
..Spastic ataxia Charlevoix-Saguenay type (C536787)
..Spinocerebellar Ataxia 10 (C566874)
..Spinocerebellar Ataxia 11 (C565772)
..Spinocerebellar Ataxia 12 (C565790)
..Spinocerebellar ataxia 13 (C537195)
..Spinocerebellar ataxia 14 (C537196)
..Spinocerebellar Ataxia 15 (C564685)
..Spinocerebellar Ataxia 17 (C564616)
..Spinocerebellar ataxia 20 (C537199)
..Spinocerebellar ataxia 25 (C537202)
..Spinocerebellar ataxia 26 (C537203)
..Spinocerebellar ataxia 28 (C537205) L: 00498;
..Spinocerebellar ataxia 30 (C575214)
..Spinocerebellar Ataxia 31 (C566146)
..Spinocerebellar Ataxia And Plaque-Like Deposits (C566671)
..Spinocerebellar Ataxia with Dysmorphism (C564802)
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..Spinocerebellar ataxia, autosomal recessive 1 (C537308)
..Spinocerebellar Ataxia, Autosomal Recessive 7 (C563753)
..Spinocerebellar Ataxia, Autosomal Recessive 8 (C565188)
..Spinocerebellar Ataxia, Autosomal Recessive 9 (C567436)
..Spinocerebellar Ataxia, X-Linked 1 (C563134)
..Spinocerebellar Ataxia, X-Linked 5 (C567478)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

11553

Name:

Spinocerebellar ataxia 26

Definition:

Alternative IDs:

DO:DOID:0050975|OMIM:609306

ParentIDs:

MESH:D020754

TreeNumbers:

C10.228.140.252.190.530/C537203 |C10.228.140.252.700.700/C537203 |C10.228.854.787.875/C537203 |C10.574.500.825.700/C537203 |C10.597.350.090.500.530/C537203 |C16.320.400.780.875/C537203

Synonyms:

SCA26 |Spinocerebellar ataxia type 26

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C537203
MeSH: C537203
OMIM: 609306;
MSeqDR :
Genes: EEF2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0001272	Cerebellar atrophy
4	HP:0001260	Dysarthria NAMDC: Dysarthria
5	HP:0000641	Dysmetric saccades
6	HP:0002066	Gait ataxia
7	HP:0001151	Impaired horizontal smooth pursuit
8	HP:0002311	Incoordination
9	HP:0002070	Limb ataxia
10	HP:0000639	Nystagmus
11	HP:0003677	Slow progression
12	HP:0002078	Truncal ataxia

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_001961.4(EEF2):c.2241G>A (p.Val747=)	1938	EEF2	Conflicting interpretations of pathogenicity	rs772173797	RCV000711580\|RCV001809777;	N	MedGen:CN517202\|MONDO:MONDO:0012246,MedGen:C1836395,OMIM:609306, Orphanet:101112	19	3977435	3977435	C	T	NC_000019.9:g.3977435C>T	-
NM_001961.4(EEF2):c.2190T>C (p.Tyr730=)	1938	EEF2	Benign	rs36527	RCV000116940\|RCV000991947\|RCV001657724;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012246,MedGen:C1836395,OMIM:609306, Orphanet:101112	19	3977486	3977486	A	G	NC_000019.9:g.3977486A>G	ClinGen:CA214488	CN169374 not specified;
NM_001961.4(EEF2):c.1979A>G (p.Asn660Ser)	1938	EEF2	not provided	rs945307250	RCV000509395;	N	MONDO:MONDO:0012246,MedGen:C1836395,OMIM:609306, Orphanet:101112	19	3977905	3977905	T	C	NC_000019.9:g.3977905T>C	ClinGen:CA304442033	C1836395 609306 Spinocerebellar ataxia 26;
NM_001961.4(EEF2):c.1787C>A (p.Pro596His)	1938	EEF2	Pathogenic	rs587777052	RCV000056312\|RCV001288169;	N	MONDO:MONDO:0012246,MedGen:C1836395,OMIM:609306, Orphanet:101112\|MedGen:CN517202	19	3978097	3978097	G	T	19:g.3978097G>T	ClinGen:CA264797,UniProtKB:P13639#VAR_070792,OMIM:130610.0001	C1836395 609306 Spinocerebellar ataxia 26;
NM_001961.4(EEF2):c.1632T>C (p.His544=)	1938	EEF2	Benign	rs36526	RCV000116939\|RCV000991944\|RCV001657723;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012246,MedGen:C1836395,OMIM:609306, Orphanet:101112	19	3979408	3979408	A	G	NC_000019.9:g.3979408A>G	ClinGen:CA214486	CN169374 not specified;
NM_001961.4(EEF2):c.1150+15T>C	1938	EEF2	Benign	-1	RCV001661269\|RCV001694150;	N	MONDO:MONDO:0012246,MedGen:C1836395,OMIM:609306, Orphanet:101112\|MedGen:CN517202	19	3980824	3980824	A	G	3980824	-

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