Insulin resistance (including lipodystrophy)
Gene: BSCL2EnsemblGeneIds (GRCh38): ENSG00000168000
EnsemblGeneIds (GRCh37): ENSG00000168000
OMIM: 606158, Gene2Phenotype
BSCL2 is in 15 panels
3 reviews
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
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- 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
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Insulin resistance (including lipodystrophy)
- Intellectual disability
- Familial diabetes
- Adult onset neurodegenerative disorder
- Neonatal diabetes
- Paediatric motor neuronopathies
- Hereditary spastic paraplegia
- Lipodystrophy - childhood onset
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Childhood onset hereditary spastic paraplegia
- Monogenic diabetes
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
Sarah Leigh (Genomics England Curator)Promoted to version 1 12/08/2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for BSCL2 were set to Lipodystrophy, congenital generalized, type 2, 269700
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BSCL2 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BSCL2 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BSCL2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BSCL2 was added to Insulin resistance (including lipodystrophy) panel. Sources: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BSCL2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BSCL2 was added to Insulin resistance (including lipodystrophy) panel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)BSCL2 was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen