Genomics England
GMS Panels
Panels
Genes and Entities

PLIN1

perilipin 1
OMIM: 170290
PanelMode of inheritanceDetails
2 panels
Green
in Monogenic diabetes
R-numbers: R141
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes, Lipodystrophy, familial partial, type 4, 613877, Severe insulin resistance, partial lipodystrophy and diabetes
Green
in Severe insulin resistance and lipodystrophy syndromes
R-numbers: R158
Signed-off version 4.56
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lipodystrophy, familial partial, type 4, 613877