Cerebral Palsy
Gene: KCNC3EnsemblGeneIds (GRCh38): ENSG00000131398
EnsemblGeneIds (GRCh37): ENSG00000131398
OMIM: 176264, Gene2Phenotype
KCNC3 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
ID and ataxia, variable age of onset, including in childhood. Reported in ataxic CP cohort.
Sources: Expert listCreated: 25 Sep 2021, 4:29 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 13, MIM# 605259
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Spinocerebellar ataxia 13, MIM# 605259
- OMIM
- 176264
- Clinvar variants
- Variants in KCNC3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kcnc3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kcnc3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KCNC3 was added gene: KCNC3 was added to Cerebral Palsy. Sources: Expert list Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNC3 were set to 16501573; 25497598; 25981959; 25981959 Phenotypes for gene: KCNC3 were set to Spinocerebellar ataxia 13, MIM# 605259 Review for gene: KCNC3 was set to GREEN