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  2. Cerebellar and Pontocerebellar Hypoplasia
  3. KCNC3
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Cerebellar and Pontocerebellar Hypoplasia

Gene: KCNC3

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Onset varies from childhood to late adulthood. Cerebellar/pontine atrophy rather than hypoplasia.
Created: 14 Feb 2021, 6:52 a.m. | Last Modified: 14 Feb 2021, 6:52 a.m.
Panel Version: 0.187

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 13, MIM# 605259

Publications

Created: 14 Feb 2021, 6:52 a.m.
Last Modified: 14 Feb 2021, 6:52 a.m.
Panel version: 0.187

Details

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

History Filter Activity

14 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnc3 has been classified as Amber List (Moderate Evidence).

14 Feb 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNC3 were changed from to Spinocerebellar ataxia 13, MIM# 605259

14 Feb 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNC3 were set to

14 Feb 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCNC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnc3 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNC3 was added gene: KCNC3 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNC3 was set to Unknown