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  2. Angelman Rett like syndromes
  3. KCNQ2
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Angelman Rett like syndromes

Gene: KCNQ2

Green List (high evidence)
KCNQ2 (potassium voltage-gated channel subfamily Q member 2)
EnsemblGeneIds (GRCh38): ENSG00000075043
EnsemblGeneIds (GRCh37): ENSG00000075043
OMIM: 602235, Gene2Phenotype
KCNQ2 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 3 unrelated individuals identified as part of Rett-like cohorts.
Sources: Expert list
Created: 13 Nov 2020, 9:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 7, MIM# 613720

Publications

Created: 13 Nov 2020, 9:58 a.m.

Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 7, MIM# 613720
OMIM
602235
Clinvar variants
Variants in KCNQ2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnq2 has been classified as Green List (High Evidence).

13 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnq2 has been classified as Green List (High Evidence).

13 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNQ2 was added gene: KCNQ2 was added to Angelman Rett like syndromes. Sources: Expert list Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNQ2 were set to 31105003; 33134511 Phenotypes for gene: KCNQ2 were set to Epileptic encephalopathy, early infantile, 7, MIM# 613720 Review for gene: KCNQ2 was set to GREEN