Lipodystrophy - childhood onset
Gene: CAVIN1As 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, 2:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Generalised Lipodystrophy with Myopathy and Cardiac Conduction Disturbance
Publications
Added new gene name tag. New approved gene symbol is CAVIN1Created: 8 May 2017, 11:20 a.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reportedCreated: 11 Aug 2016, 11:26 a.m.
Sarah Leigh: Comment when marking as ready:
Gene: cavin1 has been classified as Green List (High Evidence).
gene: CAVIN1 was added gene: CAVIN1 was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAVIN1 were set to 19726876 Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4, 613327