Genomics England
GMS Panels
Panels
Genes and Entities

KCNK3

potassium two pore domain channel subfamily K member 3
OMIM: 603220
PanelMode of inheritanceDetails
4 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental disorder with sleep apnea
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
KCNK3-related developmental disorder (monoallelic)
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental disorder with sleep apnea
Green
in Pulmonary arterial hypertension
R-numbers: R188
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Idiopathic pulmonary arterial hypertension, IPAH, Heritable pulmonary arterial hypertension, HPAH, Pulmonary arterial hypertension, Pulmonary hypertension, primary, 4, 615344