Ataxia - paediatric
Gene: KCND3
KCND3 (potassium voltage-gated channel subfamily D member 3)
EnsemblGeneIds (GRCh38): ENSG00000171385
EnsemblGeneIds (GRCh37): ENSG00000171385
OMIM: 605411, Gene2Phenotype
KCND3 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000171385
EnsemblGeneIds (GRCh37): ENSG00000171385
OMIM: 605411, Gene2Phenotype
KCND3 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Variable age of symptom onset, including paediatric. Reviewed in PMID 32823520.
Sources: Expert ReviewCreated: 14 Mar 2022, 6:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 19, MIM# 607346
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Spinocerebellar ataxia 19, MIM# 607346
- OMIM
- 605411
- Clinvar variants
- Variants in KCND3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
14 Mar 2022, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kcnd3 has been classified as Green List (High Evidence).
14 Mar 2022, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kcnd3 has been classified as Green List (High Evidence).
14 Mar 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KCND3 was added gene: KCND3 was added to Ataxia - paediatric. Sources: Expert Review Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCND3 were set to 32823520 Phenotypes for gene: KCND3 were set to Spinocerebellar ataxia 19, MIM# 607346 Review for gene: KCND3 was set to GREEN