Genomics England
GMS Panels
Panels
Genes and Entities

CAV1

caveolin 1
OMIM: 601047
PanelMode of inheritanceDetails
1 panel
Green
in Severe insulin resistance and lipodystrophy syndromes
R-numbers: R158
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Lipodystrophy, congenital generalized, type 3, 612526, Lipodystrophy, familial partial, type 7, 606721