Insulin resistance (including lipodystrophy)
Gene: BSCL2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Generalised Lipodystrophy
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reportedCreated: 11 Aug 2016, 9:36 a.m.
Comment on phenotypes: Also associated with Encephalopathy, progressive, with or without lipodystrophy 615924, Neuropathy, distal hereditary motor, type VA 60079, Silver spastic paraplegia syndrome 270685Created: 11 Aug 2016, 9:35 a.m.
Comment on phenotypes: Also associated with Encephalopathy, progressive, with or without lipodystrophy 615924, Neuropathy, distal hereditary motor, type VA 600794 and Silver spastic paraplegia syndrome 270685Created: 11 Aug 2016, 9:33 a.m.
Phenotypes for gene: BSCL2 were changed from Lipodystrophy, congenital generalized, type 2, 269700 to Lipodystrophy, congenital generalized, type 2, OMIM:269700; Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924
Promoted to version 1 12/08/2016
This gene has been classified as Green List (High Evidence).
Phenotypes for BSCL2 were set to Lipodystrophy, congenital generalized, type 2, 269700
Phenotypes for BSCL2 were set to Lipodystrophy, congenital generalized, type 2, 269700; Silver spastic paraplegia syndrome, 270685; Neuropathy, distal hereditary motor, type V, 600794; Berardinelli-Seip Congenital Lipodystrophy; Congenital Generalized Lipodystrophy Types 1 and 2
Model of inheritance for gene BSCL2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene BSCL2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene BSCL2 was changed to BIALLELIC, autosomal or pseudoautosomal
BSCL2 was added to Insulin resistance (including lipodystrophy) panel. Sources: UKGTN
Model of inheritance for gene BSCL2 was changed to BIALLELIC, autosomal or pseudoautosomal
BSCL2 was added to Insulin resistance (including lipodystrophy) panel. Sources: Illumina TruGenome Clinical Sequencing Services
BSCL2 was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen