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  2. Monogenic Diabetes
  3. PLIN1
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Monogenic Diabetes

Gene: PLIN1

Amber List (moderate evidence)
PLIN1 (perilipin 1)
EnsemblGeneIds (GRCh38): ENSG00000166819
EnsemblGeneIds (GRCh37): ENSG00000166819
OMIM: 170290, Gene2Phenotype
PLIN1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

At least 4 unrelated families reported, but also note conflicting evidence in PMID 30020498 presenting evidence against association of LoF variants with lipodystrophy.
Created: 27 Apr 2021, 10:34 a.m. | Last Modified: 27 Apr 2021, 10:34 a.m.
Panel Version: 0.13

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lipodystrophy, familial partial, type 4, MIM# 613877

Publications

Created: 27 Apr 2021, 10:34 a.m.
Last Modified: 27 Apr 2021, 10:34 a.m.
Panel version: 0.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Lipodystrophy, familial partial, type 4, 613877
  • Severe insulin resistance, partial lipodystrophy and diabetes
Tags
disputed
OMIM
170290
Clinvar variants
Variants in PLIN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Apr 2021, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: PLIN1.

27 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plin1 has been classified as Amber List (Moderate Evidence).

27 Apr 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLIN1 were changed from Lipodystrophy, familial partial, type 4, 613877; partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Severe insulin resistance, partial lipodystrophy and diabetes to Lipodystrophy, familial partial, type 4, 613877; Severe insulin resistance, partial lipodystrophy and diabetes

27 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plin1 has been classified as Amber List (Moderate Evidence).

17 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLIN1 was added gene: PLIN1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PLIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLIN1 were set to 11371650; 21345103; 25695774; 30020498 Phenotypes for gene: PLIN1 were set to Lipodystrophy, familial partial, type 4, 613877; partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Severe insulin resistance, partial lipodystrophy and diabetes