Genomics England
GMS Panels
Panels
Genes and Entities

DNAJB6

DnaJ heat shock protein family (Hsp40) member B6
OMIM: 611332
PanelMode of inheritanceDetails
2 panels
Green
in Distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
limb-girdle muscular dystrophy type 1E, 603511
Green
in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.37
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Limb-Girdle Muscular Dystrophy, Dominant, Muscular dystrophy, limb-girdle, type 1E, 603511