Genomics England
GMS Panels
Panels
Genes and Entities

CAVIN1

caveolae associated protein 1
OMIM: 603198
PanelMode of inheritanceDetails
2 panels
Green
in Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lipodystrophy, congenital generalized, type 4, OMIM:613327
Green
in Severe insulin resistance and lipodystrophy syndromes
R-numbers: R158
Signed-off version 4.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lipodystrophy, congenital generalized, type 4, 613327