Insulin resistance (including lipodystrophy)

Gene: PLIN1

Amber List (moderate evidence)

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.

David Savage (IMS MRL, Uni. Cambridge)

Green List (high evidence)

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.

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

Mode of pathogenicity
Other

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
Panels with this gene

History Filter Activity

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

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 12/08/2016

12 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for PLIN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for PLIN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PLIN1 were set to 25114292; 21345103

24 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PLIN1 was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen