Genomics England
GMS Panels
Panels
Genes and Entities

KLHL40

kelch like family member 40
OMIM: 615340
PanelMode of inheritanceDetails
4 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 8, autosomal recessive, 615348
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 8, autosomal recessive, OMIM:615348
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE 615348
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE