Lipodystrophy - childhood onset
Gene: BSCL2EnsemblGeneIds (GRCh38): ENSG00000168000
EnsemblGeneIds (GRCh37): ENSG00000168000
OMIM: 606158, Gene2Phenotype
BSCL2 is in 15 panels
4 reviews
Ivone Leong (Genomics England Curator)
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, 2:17 p.m.
David Savage (IMS MRL, Uni. Cambridge)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Robert Semple (University of Cambridge)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Generalised Lipodystrophy
Variants in this GENE are reported as part of current diagnostic practice
Sarah Leigh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Lipodystrophy, congenital generalized, type 2, OMIM:269700
- Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924
- OMIM
- 606158
- Clinvar variants
- Variants in BSCL2
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- Insulin resistance (including lipodystrophy)
- Familial diabetes
- Adult onset neurodegenerative disorder
- Neonatal diabetes
- Paediatric motor neuronopathies
- Hereditary neuropathy or pain disorder
- Hereditary spastic paraplegia
- Monogenic diabetes
- Lipodystrophy - childhood onset
- Early onset or syndromic epilepsy
- Adult onset hereditary spastic paraplegia
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Sarah Leigh: Comment on phenotypes: Also as
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: bscl2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Sarah Leigh (Genomics England Curator)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