Genomics England
GMS Panels
Panels
Genes and Entities

KBTBD13

kelch repeat and BTB domain containing 13
OMIM: 613727
PanelMode of inheritanceDetails
2 panels
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Nemaline myopathy 6, autosomal dominant, OMIM:609273
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NEMALINE MYOPATHY 6 609273