Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: PLIN1EnsemblGeneIds (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)
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 Amber
- 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
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: PLIN1 were set to 21345103
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: plin1 has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)PLIN1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)PLIN1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Expert Review