Hereditary neuropathy
Gene: BSCL2
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
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.
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
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.
Phenotypes for gene: BSCL2 were changed from Neuropathy, distal hereditary motor, type VA 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924; Lipodystrophy, congenital generalized, type 2 269700; Silver spastic paraplegia syndrome 270685 to Neuropathy, distal hereditary motor, type VC, OMIM:619112
Added phenotypes Neuropathy, distal hereditary motor, type VA 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924; Lipodystrophy, congenital generalized, type 2 269700; Silver spastic paraplegia syndrome 270685 for gene: BSCL2 Publications for gene BSCL2 were changed from PMID: 26392352 to 26392352
Source South West GLH was added to BSCL2.
Source NHS GMS was added to BSCL2.
Source London North GLH was added to BSCL2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Publications for BSCL2 were set to PMID: 26392352
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene BSCL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene BSCL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene BSCL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene BSCL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
BSCL2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene BSCL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
BSCL2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory
BSCL2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory