Genomics England
GMS Panels
Panels
Genes and Entities
CAVIN1
caveolae associated protein 1
OMIM:
603198
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Panel
Mode of inheritance
Details
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Lipodystrophy - childhood onset
R-numbers:
R158
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lipodystrophy, congenital generalized, type 4, 613327