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  2. Ataxia - paediatric
  3. KCNC3
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Ataxia - paediatric

Gene: KCNC3

Green List (high evidence)
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: 0.122

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 13 MIM#605259
OMIM
176264
Clinvar variants
Variants in KCNC3
Penetrance
None
Panels with this gene

History Filter Activity

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kcnc3 has been classified as Green List (High Evidence).

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kcnc3 has been classified as Green List (High Evidence).

16 Apr 2020, Gel status: 1

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 - paediatric. Sources: Expert list Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNC3 were set to Spinocerebellar ataxia 13 MIM#605259 Review for gene: KCNC3 was set to GREEN