Hereditary neuropathy or pain disorder
Gene: BSCL2EnsemblGeneIds (GRCh38): ENSG00000168000
EnsemblGeneIds (GRCh37): ENSG00000168000
OMIM: 606158, Gene2Phenotype
BSCL2 is in 15 panels
8 reviews
Natalie Forrester (SWGLH - Bristol Genetics)
Multiple C5s in Bristol. Several phenotypic associations including overlapping phenotypes. PMID: 26392352 is Bristol cohort report-5 reports. Several patients has mixed phenotypes but also included pyramidal signs and spasticity.Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuropathy, distal hereditary motor, type VA 600794; Silver spastic paraplegia syndrome 270685; Lipodystrophy, congenital generalized, type 2 269700; Encephalopathy, progressive, with or without lipodystrophy, 615924
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Variants in this GENE are reported as part of current diagnostic practice
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mary Reilly (Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Is on the Charcot-Marie- Tooth disease type 2 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 1:02 p.m.
Comment on list classification: Promoted from amber to green due to agreement from 4 reviewers.Created: 4 May 2016, 8:33 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- South West GLH
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Expert list
- London North GLH
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
- Phenotypes
-
- Neuropathy, distal hereditary motor, type VC, OMIM:619112
- OMIM
- 606158
- Clinvar variants
- Variants in BSCL2
- Penetrance
- None
- Publications
- 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; Neuropathy, distal hereditary motor, type VA 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome 270685 to Neuropathy, distal hereditary motor, type VC, OMIM:619112
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: BSCL2 was added gene: BSCL2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BSCL2 were set to 26392352 Phenotypes for gene: BSCL2 were set to Lipodystrophy, congenital generalized, type 2 269700; Neuropathy, distal hereditary motor, type VA 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome 270685