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  2. Dystonia - isolated/combined
  3. KCTD17
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Dystonia - isolated/combined

Gene: KCTD17

Green List (high evidence)
KCTD17 (potassium channel tetramerization domain containing 17)
EnsemblGeneIds (GRCh38): ENSG00000100379
EnsemblGeneIds (GRCh37): ENSG00000100379
OMIM: 616386, Gene2Phenotype
KCTD17 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Four cases/families reported with myoclonic dystonia.
Created: 6 Apr 2020, 1:05 a.m. | Last Modified: 6 Apr 2020, 1:05 a.m.
Panel Version: 0.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia 26, myoclonic MIM#616398

Publications

Created: 6 Apr 2020, 1:05 a.m.
Last Modified: 6 Apr 2020, 1:05 a.m.
Panel version: 0.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia 26, myoclonic MIM#616398
OMIM
616386
Clinvar variants
Variants in KCTD17
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kctd17 has been classified as Green List (High Evidence).

27 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCTD17 were changed from Dystonia 26, myoclonic to Dystonia 26, myoclonic MIM#616398

27 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCTD17 were set to

27 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KCTD17 was added gene: KCTD17 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: KCTD17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCTD17 were set to Dystonia 26, myoclonic