Genomics England
GMS Panels
Panels
Genes and Entities

KCNK3

potassium two pore domain channel subfamily K member 3
OMIM: 603220
PanelMode of inheritanceDetails
5 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 10.16
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 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
KCNK3-related developmental disorder (monoallelic)
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder, MONDO:0700092, KCNK3-related
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental disorder with sleep apnea
Green
in Pulmonary arterial hypertension
R-numbers: R188
Signed-off version 4.14
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pulmonary hypertension, primary, 4, OMIM:615344