Hereditary neuropathy
Gene: SH3TC2
Multiple C5s in Bristol. Also well established from looking at HGMD. PMID: 19805030 - mouse model showing Sh3tc2-null mice developed a progressive peripheral neuropathy manifest by decreased motor and sensory nerve conduction velocity and hypomyelinationCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot Marie Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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, 1:09 p.m.
Is on the Charcot-Marie- Tooth disease type 1 / 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, 1:01 p.m.
Added phenotypes Mononeuropathy of the median nerve, mild, 613353; Charcot Marie Tooth disease, type 4C, 601596 for gene: SH3TC2 Publications for gene SH3TC2 were changed from to 19805030
Source South West GLH was added to SH3TC2.
Source NHS GMS was added to SH3TC2.
Source London North GLH was added to SH3TC2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for SH3TC2 were set to Charcot Marie Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353
Model of inheritance for gene SH3TC2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SH3TC2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SH3TC2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SH3TC2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SH3TC2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SH3TC2 was changed to BIALLELIC, autosomal or pseudoautosomal
SH3TC2 was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory
Model of inheritance for gene SH3TC2 was changed to BIALLELIC, autosomal or pseudoautosomal
SH3TC2 was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory
Model of inheritance for gene SH3TC2 was changed to BIALLELIC, autosomal or pseudoautosomal
SH3TC2 was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory
Model of inheritance for gene SH3TC2 was changed to BIALLELIC, autosomal or pseudoautosomal
SH3TC2 was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory
SH3TC2 was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory