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Intellectual disability syndromic and non-syndromic

Gene: KCNC2

Green List (high evidence)

KCNC2 (potassium voltage-gated channel subfamily C member 2)
EnsemblGeneIds (GRCh38): ENSG00000166006
EnsemblGeneIds (GRCh37): ENSG00000166006
OMIM: 176256, Gene2Phenotype
KCNC2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported. ID ranges from mild to severe.
Sources: Expert Review
Created: 17 Jun 2022, 1:09 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy 103, MIM# 619913

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Developmental and epileptic encephalopathy 103, MIM# 619913
OMIM
176256
Clinvar variants
Variants in KCNC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jun 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnc2 has been classified as Green List (High Evidence).

17 Jun 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnc2 has been classified as Green List (High Evidence).

17 Jun 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNC2 was added gene: KCNC2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Mode of inheritance for gene: KCNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNC2 were set to 32392612; 31972370; 35314505 Phenotypes for gene: KCNC2 were set to Developmental and epileptic encephalopathy 103, MIM# 619913 Review for gene: KCNC2 was set to GREEN