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Mendeliome

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 with 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.
Sources: Expert list
Created: 31 Jan 2020, 3:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lipodystrophy, familial partial, type 6, 615980

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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

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: 0

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

Kristin Rigbye (Victorian Clinical Genetics Services)

gene: LIPE was added gene: LIPE was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: LIPE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPE were set to 27862896; 25475467; 24848981 Phenotypes for gene: LIPE were set to Lipodystrophy, familial partial, type 6, 615980 Review for gene: LIPE was set to GREEN gene: LIPE was marked as current diagnostic