Lipodystrophy - childhood onset
Gene: BSCL2As 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, 2:17 p.m.
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
Sarah Leigh: Comment on phenotypes: Also as
Gene: bscl2 has been classified as Green List (High Evidence).
gene: BSCL2 was added gene: BSCL2 was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BSCL2 were set to Lipodystrophy, congenital generalized, type 2, 269700