Genomics England
GMS Panels
Panels
Genes and Entities

HNRNPDL

heterogeneous nuclear ribonucleoprotein D like
OMIM: 607137
PanelMode of inheritanceDetails
1 panel
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 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Muscular dystrophy, limb-girdle, type 1G 609115, Limb girdle muscular dystrophy