Insulin resistance (including lipodystrophy)
Gene: PLIN1Comment 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.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least three frame-shifting variants reported in five unrelated familiesCreated: 12 Aug 2016, 3:35 p.m.
All pathogenic mutations to date are frameshifts leading to translation of an aberrent C terminus of the proteinCreated: 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
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
Publications for gene: PLIN1 were set to 25114292; 21345103
Gene: plin1 has been classified as Amber List (Moderate Evidence).
Promoted to version 1 12/08/2016
Mode of inheritance for PLIN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PLIN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
This gene has been classified as Green List (High Evidence).
Publications for PLIN1 were set to 25114292; 21345103
PLIN1 was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen