Insulin resistance (including lipodystrophy)
Gene: CAVIN1
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.
PTRF was changed to CAVIN1
new-gene-name was removed from PTRF. Panel: Insulin resistance (including lipodystrophy)
Promoted to version 1 12/08/2016
This gene has been classified as Green List (High Evidence).
Publications for PTRF were set to 19726876
Phenotypes for PTRF were set to Lipodystrophy, congenital generalized, type 4, 613327
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene PTRF was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene PTRF was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene PTRF was changed to BIALLELIC, autosomal or pseudoautosomal
PTRF was added to Insulin resistance (including lipodystrophy) panel. Sources: Illumina TruGenome Clinical Sequencing Services
PTRF was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen