Lipodystrophy - childhood onset
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)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 5 Feb 2019, 2:23 p.m.

Keven Colclough (Royal Devon & Exeter Hospital) has agreed that LIPE should be promoted to green gene status.
Created: 8 Jan 2019, 12:52 p.m.

Comment on list classification: Promoted from red to green gene. LIPE was included in the gene list as suggested by Kevin Colclough (Royal Devon & Exeter Hospital). 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. Therefore, LIPE has been promoted from red to green status.
Created: 7 Jan 2019, 12:04 p.m.

Created: 7 Jan 2019, 12:01 p.m.

Panel version: 1.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review
Expert list

Phenotypes

Lipodystrophy, familial partial, type 6, 615980

OMIM

151750

Clinvar variants

Variants in LIPE

Penetrance

None

Publications

Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Comment on list classification

8 Jan 2019, Gel status: 3