Hereditary neuropathy
Gene: IGHMBP2
Multiple C5s in Bristol including patients with SMARDCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2S 616155; Neuronopathy, distal hereditary motor, type VI, 604320
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
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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, 1:06 p.m.
Comment on list classification: Promoted from amber to green due to agreement from 4 reviewers.Created: 4 May 2016, 8:47 a.m.
Publications for gene: IGHMBP2 were set to 26392352
Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2S 616155; Neuronopathy, distal hereditary motor, type VI, 604320 for gene: IGHMBP2 Publications for gene IGHMBP2 were changed from PMID: 26392352 to 26392352
Source South West GLH was added to IGHMBP2.
Source NHS GMS was added to IGHMBP2.
Source London North GLH was added to IGHMBP2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Publications for IGHMBP2 were set to PMID: 26392352
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene IGHMBP2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene IGHMBP2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene IGHMBP2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene IGHMBP2 was changed to BIALLELIC, autosomal or pseudoautosomal
IGHMBP2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene IGHMBP2 was changed to BIALLELIC, autosomal or pseudoautosomal
IGHMBP2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory
IGHMBP2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory