Genomics England
GMS Panels
Panels
Genes and Entities

KCNJ6

potassium voltage-gated channel subfamily J member 6
OMIM: 600877
PanelMode of inheritanceDetails
3 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
KEPPEN-LUBINSKY SYNDROME 614098
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Keppen-Lubinsky syndrome 614098
Green
in Lipodystrophy - childhood onset
R-numbers: R158
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Keppen-Lubinsky syndrome, OMIM:614098, Keppen-Lubinsky syndrome, MONDO:0013572