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Monogenic diabetes v2.46 PLIN1 Ivone Leong 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
Monogenic diabetes v2.45 PLIN1 Sarah Leigh reviewed gene: PLIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Monogenic diabetes v2.45 PLIN1 Sarah Leigh Publications for gene: PLIN1 were set to 21345103; 30020498; 11371650; 25695774
Monogenic diabetes v2.32 PLIN1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes;Lipodystrophy, familial partial, type 4, 613877;Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic diabetes v2.32 PLIN1 Ivone Leong Phenotypes for gene: PLIN1 were changed from partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Lipodystrophy, familial partial, type 4, 613877; Severe insulin resistance, partial lipodystrophy and diabetes to Lipodystrophy, familial partial, type 4, OMIM:613877
Monogenic diabetes v1.32 PLIN1 Ivone Leong Phenotypes for gene: PLIN1 were changed from partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Lipodystrophy, familial partial, type 4, 613877 to partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Lipodystrophy, familial partial, type 4, 613877; Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic diabetes v1.3 PLIN1 Ivone Leong Publications for gene: PLIN1 were set to 21345103; 30020498
Monogenic diabetes v1.1 PLIN1 Jayne Houghton reviewed gene: PLIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21345103, 21345103, 21345103, 30020498, 11371650, 25695774; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.24 PLIN1 Ivone Leong Classified gene: PLIN1 as Green List (high evidence)
Monogenic diabetes v0.24 PLIN1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.24 PLIN1 Ivone Leong Gene: plin1 has been classified as Green List (High Evidence).
Monogenic diabetes v0.8 PLIN1 Ivone Leong reviewed gene: PLIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.7 PLIN1 Ivone Leong Source NHS GMS was added to PLIN1.
Monogenic diabetes v0.6 PLIN1 Louise Daugherty Publications for gene: PLIN1 were set to 21345103
Monogenic diabetes v0.5 PLIN1 Louise Daugherty Classified gene: PLIN1 as Amber List (moderate evidence)
Monogenic diabetes v0.5 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.
Monogenic diabetes v0.5 PLIN1 Louise Daugherty Gene: plin1 has been classified as Amber List (Moderate Evidence).
Monogenic diabetes v0.2 PLIN1 Ellen McDonagh Added phenotypes partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes for gene: PLIN1
Monogenic diabetes v0.2 PLIN1 Ellen McDonagh Added phenotypes partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes for gene: PLIN1
Publications for gene PLIN1 were changed from 21345103; 25114292 to 21345103
Monogenic diabetes v0.2 PLIN1 Ellen McDonagh gene: PLIN1 was added
gene: PLIN1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: PLIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLIN1 were set to 21345103; 25114292
Phenotypes for gene: PLIN1 were set to Lipodystrophy, familial partial, type 4, 613877