Genomics England
GMS Panels
Panels
Genes and Entities

KCNK4

potassium two pore domain channel subfamily K member 4
OMIM: 605720
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth), Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental delay, Intellectual disability, Seizures, Gingival overgrowth, Hypertrichosis