Lipodystrophy_Lipoatrophy

Gene: LIPE

Green List (high evidence)

LIPE (lipase E, hormone sensitive type)
EnsemblGeneIds (GRCh38): ENSG00000079435
EnsemblGeneIds (GRCh37): ENSG00000079435
OMIM: 151750, Gene2Phenotype
LIPE is in 2 panels

1 review

Kristin Rigbye (Victorian Clinical Genetics Services)

Green List (high evidence)

LIPE is confirmed to be associated to partial familial lipodystrophy in OMIM.
There are 3 unrelated cases of patients with partial lipodystrophy with different loss of function variants in the LIPE gene.
Created: 31 Jan 2020, 12:15 a.m. | Last Modified: 31 Jan 2020, 12:15 a.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lipodystrophy, familial partial, type 6, 615980

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipodystrophy, familial partial, type 6, 615980
OMIM
151750
Clinvar variants
Variants in LIPE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lipe has been classified as Green List (High Evidence).

31 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LIPE were changed from to Lipodystrophy, familial partial, type 6, 615980

31 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LIPE were set to

31 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LIPE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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