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  3. PLIN1
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Lipodystrophy_Lipoatrophy

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, 10:29 a.m. | Last Modified: 27 Apr 2021, 10:29 a.m.
Panel Version: 0.69

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 27 Apr 2021, 10:29 a.m.
Last Modified: 27 Apr 2021, 10:29 a.m.
Panel version: 0.69

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipodystrophy, familial partial, type 4, MIM# 613877
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

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

27 Apr 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PLIN1 were set to

27 Apr 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PLIN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: PLIN1.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLIN1 was added gene: PLIN1 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PLIN1 was set to Unknown