Ataxia and cerebellar anomalies - narrow panel
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
EnsemblGeneIds (GRCh38): ENSG00000131398
EnsemblGeneIds (GRCh37): ENSG00000131398
OMIM: 176264, Gene2Phenotype
KCNC3 is in 11 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Spinocerebellar ataxia 13
- OMIM
- 176264
- Clinvar variants
- Variants in KCNC3
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Cerebellar hypoplasia
- Hereditary ataxia
- Adult onset neurodegenerative disorder
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Spinocerebellar ataxia 13 for gene: KCNC3
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: KCNC3 was added gene: KCNC3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green 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