Genomics England
GMS Panels
Panels
Genes and Entities

SNUPN

snurportin 1
OMIM: 607902
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SNUPN-related muscular dystrophy with or without multi-system involvement, MONDO:0971171
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 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 29, OMIM:620793