Insulin resistance (including lipodystrophy)
Gene: LIPE

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

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Keven Colclough (Royal Devon & Exeter Hospital) has recommended that this gene be included in this panel. LIPE is a green gene in the Lipodystrophy - childhood onset panel (Version 1.0). LIPE is confirmed to be associated to partial familial lipodystrophy in OMIM but not in Gene2Phenotype. There are 3 unrelated cases of patients with partial lipodystrophy with different variants in the LIPE gene.
Sources: Expert list
Created: 8 Jan 2019, 3:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 8 Jan 2019, 3:43 p.m.

Panel version: 1.8

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

OMIM

151750

Clinvar variants

Variants in LIPE

Penetrance

None

Publications

Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

8 Jan 2019, Gel status: 1

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