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Ataxia - paediatric

Gene: KCND3

Green List (high evidence)

KCND3 (potassium voltage-gated channel subfamily D member 3)
EnsemblGeneIds (GRCh38): ENSG00000171385
EnsemblGeneIds (GRCh37): ENSG00000171385
OMIM: 605411, Gene2Phenotype
KCND3 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variable age of symptom onset, including paediatric. Reviewed in PMID 32823520.
Sources: Expert Review
Created: 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