1. Panels
  2. Angelman Rett like syndromes
  3. KCNA2
STRs in panel
Prev Next
Regions in panel
Prev Next

Angelman Rett like syndromes

Gene: KCNA2

Green List (high evidence)
KCNA2 (potassium voltage-gated channel subfamily A member 2)
EnsemblGeneIds (GRCh38): ENSG00000177301
EnsemblGeneIds (GRCh37): ENSG00000177301
OMIM: 176262, Gene2Phenotype
KCNA2 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Rett-like phenotype, PMID 27062609.
Created: 21 May 2021, 9:44 a.m. | Last Modified: 21 May 2021, 9:44 a.m.
Panel Version: 0.46

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Early infantile encephalopathy 32, MIM#616366

Publications

Created: 21 May 2021, 9:44 a.m.
Last Modified: 21 May 2021, 9:44 a.m.
Panel version: 0.46

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Early infantile encephalopathy 32, MIM#616366
OMIM
176262
Clinvar variants
Variants in KCNA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcna2 has been classified as Green List (High Evidence).

21 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNA2 were changed from to Early infantile encephalopathy 32, MIM#616366

21 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNA2 were set to

21 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNA2 was added gene: KCNA2 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNA2 was set to Unknown