Lipodystrophy_Lipoatrophy
Gene: LIPEEnsemblGeneIds (GRCh38): ENSG00000079435
EnsemblGeneIds (GRCh37): ENSG00000079435
OMIM: 151750, Gene2Phenotype
LIPE is in 2 panels
1 review
Kristin Rigbye (Victorian Clinical Genetics Services)
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lipe has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LIPE were changed from to Lipodystrophy, familial partial, type 6, 615980
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: LIPE were set to
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
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