Activity
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12 actions
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| Familial diabetes v1.65 | PLIN1 | Sarah Leigh edited their review of gene: PLIN1: Added comment: PLIN1 haploinsufficiency is not responsible for the phenotype associated with this gene (PMID:30020498). It would appear that frameshifting variants that escape nonsense-mediated mRNA decay (NMD) are expressed and have a dominant negative effect. At least four frame shifting variants that result in the inclusion of aberrant C-terminal amino acids (125 - 166 amino acids) have been reported in cases of Lipodystrophy, familial partial, type 4 (OMIM:613877) (PMID:21345103;25114292;29747582), together with segregation information in two cases (PMID:21345103). Functional studies show that the variant mRNA is expressed at a lower level than wild type, the variant perilipin was correctly targeted to the lipid-droplet surface, but droplets were smaller than in the wild type cells (PMID:21345103; 25114292).; Changed rating: GREEN; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial diabetes v1.65 | PLIN1 | Sarah Leigh Added comment: Comment on phenotypes: partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial diabetes v1.65 | PLIN1 | Sarah Leigh Phenotypes for gene: PLIN1 were changed from partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes to Lipodystrophy, familial partial, type 4, OMIM:613877 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial diabetes v1.64 | PLIN1 | Sarah Leigh Publications for gene: PLIN1 were set to 21345103; 30020498; 11371650; 25695774 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial diabetes v1.31 | PLIN1 | Ivone Leong Classified gene: PLIN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial diabetes v1.31 | PLIN1 | Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on the new evidence provided by Jayne Houghton (Royal Devon and Exeter Foundation Trust). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial diabetes v1.31 | PLIN1 | Ivone Leong Gene: plin1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial diabetes v1.30 | PLIN1 | Ivone Leong Publications for gene: PLIN1 were set to 21345103; 30020498 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial diabetes v1.15 | PLIN1 | Louise Daugherty Publications for gene: PLIN1 were set to 21345103 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial diabetes v1.14 | PLIN1 | Louise Daugherty Classified gene: PLIN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial diabetes v1.14 | PLIN1 | Louise Daugherty Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial diabetes v1.14 | PLIN1 | Louise Daugherty Gene: plin1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||