Lipodystrophy - childhood onset
Gene: LIPEAs 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.
Ivone Leong: Comment on list classification
Gene: lipe has been classified as Green List (High Evidence).
Gene: lipe has been classified as Green List (High Evidence).
Gene: lipe has been classified as Green List (High Evidence).
Gene: lipe has been classified as Green List (High Evidence).
Publications for gene: LIPE were set to 27862896
gene: LIPE was added gene: LIPE was added to Lipodystrophy - childhood onset. Sources: Expert list,Expert Review Mode of inheritance for gene: LIPE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPE were set to 27862896 Phenotypes for gene: LIPE were set to Lipodystrophy, familial partial, type 6, 615980