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Ataxia - adult onset

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)

Over 60 individuals reported with neurological disorders and variants in KCND3. Two broad clinical groups in terms of presentation: neurodevelopmental disorder with epilepsy and/or movement disorders with ataxia later in the disease course characterized the early onset forms, while a prominent ataxic syndrome with possible cognitive decline, movement disorders, and peripheral neuropathy were observed in the late onset forms
Created: 14 Mar 2022, 6:44 a.m. | Last Modified: 14 Mar 2022, 6:44 a.m.
Panel Version: 0.152

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 19, MIM# 607346

Publications

Created: 14 Mar 2022, 6:44 a.m.
Last Modified: 14 Mar 2022, 6:44 a.m.
Panel version: 0.152

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
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

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCND3 were changed from Spinocerebellar ataxia 19, 607346; Spinocerebellarataxia19, 607346 to Spinocerebellar ataxia 19, MIM# 607346

14 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCND3 were set to

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: KCND3 was added gene: KCND3 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCND3 were set to Spinocerebellar ataxia 19, 607346; Spinocerebellarataxia19, 607346