Lipodystrophy - childhood onsetGene: ZMPSTE24
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mandibuloacral dysplasia with lipodystrophy
Comment on phenotypes: Variants also reported in Restrictive dermopathy, lethal, 275210
Created: 12 Aug 2016, 4:18 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reported. Phenotype does not fit with all the inclusion criteria (no Acanthosis nigricans, or mention of obesity status)
Created: 11 Aug 2016, 12:15 p.m.
Sarah Leigh: Comment when marking as ready:
Gene: zmpste24 has been classified as Green List (High Evidence).
gene: ZMPSTE24 was added gene: ZMPSTE24 was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZMPSTE24 were set to 18435794; 16297189; 20034068; 12913070; 15317753 Phenotypes for gene: ZMPSTE24 were set to Mandibuloacral dysplasia with type B lipodystrophy, 608612