Genomics England
GMS Panels
Panels
Genes and Entities

TRIM32

tripartite motif containing 32
OMIM: 602290
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BARDET-BIEDL SYNDROME TYPE 11 209900, LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H 254110
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 6.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 8, OMIM:254110, autosomal recessive limb-girdle muscular dystrophy type 2H, MONDO:0009683