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Dystonia - isolated/combined

Gene: KCNN2

Green List (high evidence)
KCNN2 (potassium calcium-activated channel subfamily N member 2)
EnsemblGeneIds (GRCh38): ENSG00000080709
EnsemblGeneIds (GRCh37): ENSG00000080709
OMIM: 605879, Gene2Phenotype
KCNN2 is in 5 panels

1 review

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 32212350: one family with multiple affected individuals, autosomal-dominant tremulous
myoclonus-dystonia.

PMID: 33242881: one of the patients had myoclonus-dystonia, one with dystonia and dyskinesia (limbs and trunk).
Sources: Literature
Created: 1 Feb 2022, 11:23 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia 34, myoclonic, MIM#619724; Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 1 Feb 2022, 11:23 p.m.

Panel version: 1.16

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Dystonia 34, myoclonic, MIM#619724
  • Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725
OMIM
605879
Clinvar variants
Variants in KCNN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: kcnn2 has been classified as Green List (High Evidence).

1 Feb 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: KCNN2 were set to PMID: 32212350; 33242881

1 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: kcnn2 has been classified as Green List (High Evidence).

1 Feb 2022, Gel status: 0

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

Chern Lim (Victorian Clinical Genetics Services)

gene: KCNN2 was added gene: KCNN2 was added to Dystonia - isolated/combined. Sources: Literature Mode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNN2 were set to PMID: 32212350; 33242881 Phenotypes for gene: KCNN2 were set to Dystonia 34, myoclonic, MIM#619724; Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725 Review for gene: KCNN2 was set to GREEN gene: KCNN2 was marked as current diagnostic