KLHL40

kelch like family member 40
OMIM: 615340
PanelMode of inheritanceDetails
4 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 8, autosomal recessive, 615348
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 8, autosomal recessive, 615348
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE 615348
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE