Genes in panel

Hereditary neuropathy

Gene: SH3TC2

Green List (high evidence)

SH3TC2 (SH3 domain and tetratricopeptide repeats 2)
EnsemblGeneIds (GRCh38): ENSG00000169247
EnsemblGeneIds (GRCh37): ENSG00000169247
OMIM: 608206, Gene2Phenotype
SH3TC2 is in 3 panels

8 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

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 hypomyelination
Created: 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

Louise Daugherty (Genomics England Curator)

I don't know

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)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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, 1:09 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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Mononeuropathy of the median nerve, mild, 613353
  • Charcot Marie Tooth disease, type 4C, 601596
OMIM
608206
Clinvar variants
Variants in SH3TC2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to SH3TC2.

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SH3TC2.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SH3TC2. Rating Changed from Green List (high evidence) to Green List (high evidence)

3 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SH3TC2 were set to Charcot Marie Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SH3TC2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SH3TC2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SH3TC2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SH3TC2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SH3TC2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SH3TC2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SH3TC2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

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

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SH3TC2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

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

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SH3TC2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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