Insulin resistance (including lipodystrophy)
Gene: PLIN1

PLIN1 (perilipin 1)
EnsemblGeneIds (GRCh38): ENSG00000166819
EnsemblGeneIds (GRCh37): ENSG00000166819
OMIM: 170290, Gene2Phenotype
PLIN1 is in 5 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene was downgraded from Green to Amber due to the findings of PMID: 30020498 - variants in this gene predicted to cause haplosufficiency are not a cause of familial partial lipodystrophy.
Created: 20 Dec 2018, 5:46 p.m.

Created: 20 Dec 2018, 5:46 p.m.

Panel version: 1.5

David Savage (IMS MRL, Uni. Cambridge)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least three frame-shifting variants reported in five unrelated families
Created: 12 Aug 2016, 3:35 p.m.

Created: 11 Aug 2016, 11:53 a.m.

Panel version: 0.35

Robert Semple (University of Cambridge)

Green List (high evidence)

All pathogenic mutations to date are frameshifts leading to translation of an aberrent C terminus of the protein
Created: 12 Oct 2015, 8:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Familial Partial Lipodystrophy

Publications

PMID: 21345103

Mode of pathogenicity
Other

Created: 12 Oct 2015, 8:43 a.m.

Panel version: 0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Radboud University Medical Center, Nijmegen

Phenotypes

Lipodystrophy, familial partial, type 4, 613877

OMIM

170290

Clinvar variants

Variants in PLIN1

Penetrance

Complete

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

21 Jan 2022, Gel status: 2

Set mode of pathogenicity

Ivone Leong (Genomics England Curator)

Mode of pathogenicity for gene: PLIN1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

20 Dec 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: PLIN1 were set to 25114292; 21345103

20 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: plin1 has been classified as Amber List (Moderate Evidence).

12 Aug 2016, Gel status: 4