Hereditary ataxia with onset in adulthood
Gene: KCNC3

KCNC3 (potassium voltage-gated channel subfamily C member 3)
EnsemblGeneIds (GRCh38): ENSG00000131398
EnsemblGeneIds (GRCh37): ENSG00000131398
OMIM: 176264, Gene2Phenotype
KCNC3 is in 11 panels

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

On Oxford and Sheffield panels. 6 DM on HGMD.
Created: 27 Apr 2019, 7:39 p.m.

Created: 27 Apr 2019, 7:39 p.m.

Panel version: 1.11

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group

Created: 27 Apr 2019, 8:55 p.m.

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.14

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Multiple cases and variants reported in literature
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 13, 605259

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

London North GLH
NHS GMS
Wessex and West Midlands GLH
Expert Review Green
Hereditary ataxia v1.148

Phenotypes

Spinocerebellar ataxia 13, 605259
Spinocerebellar ataxia 13

OMIM

176264

Clinvar variants

Variants in KCNC3

Penetrance

None

Panels with this gene