Diabetes with additional phenotypes suggestive of a monogenic aetiology

Gene: PLIN1

Amber List (moderate evidence)

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

3 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, 5:47 p.m.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green due to expert review - Sian Ellard (University of Exeter Medical School).
Created: 23 Aug 2016, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
Phenotypes
  • partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes
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 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).

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

23 Aug 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PLIN1 was created by ellenmcdonagh

23 Aug 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PLIN1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Expert Review