Ataxia - adult onset
Gene: KCNC3

KCNC3 (potassium voltage-gated channel subfamily C member 3)
EnsemblGeneIds (GRCh38): ENSG00000131398
EnsemblGeneIds (GRCh37): ENSG00000131398
OMIM: 176264, Gene2Phenotype
KCNC3 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 13, MIM# 605259

Publications

Created: 25 Sep 2021, 4:31 a.m.
Last Modified: 25 Sep 2021, 4:31 a.m.
Panel version: Imported from Mendeliome panel version 0.9236

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Variable age at onset, ranging from childhood to late adulthood.
Sources: Expert list
Created: 16 Apr 2020, 11:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 13 MIM#605259

Created: 16 Apr 2020, 11:39 p.m.

Panel version: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version 0.122

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Expert list
Royal Melbourne Hospital
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Spinocerebellar ataxia 13
Spinocerebellar ataxia 13, 605259

OMIM

176264

Clinvar variants

Variants in KCNC3

Penetrance

None

Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: KCNC3 was added gene: KCNC3 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNC3 were set to Spinocerebellar ataxia 13; Spinocerebellar ataxia 13, 605259

Ataxia - adult onset Gene: KCNC3