Hereditary neuropathy or pain disorder
Gene: SH3TC2EnsemblGeneIds (GRCh38): ENSG00000169247
EnsemblGeneIds (GRCh37): ENSG00000169247
OMIM: 608206, Gene2Phenotype
SH3TC2 is in 3 panels
10 reviews
Eleanor Williams (Genomics England Curator)
The mode of inheritance of this gene has been updated toBOTH monoallelic and biallelic, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 10:16 a.m. | Last Modified: 1 Feb 2023, 10:16 a.m.
Panel Version: 2.18
Sarah Leigh (Genomics England Curator)
The Q2_22_MOI tag has been added to this gene as the MOI should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal, as both Charcot-Marie-Tooth disease, type 4C, OMIM:601596 and Mononeuropathy of the median nerve, mild, OMIM:613353 are relevant to this panel.Created: 19 Apr 2022, 2:55 p.m. | Last Modified: 19 Apr 2022, 2:55 p.m.
Panel Version: 1.100
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 4C, OMIM:601596; Mononeuropathy of the median nerve, mild, OMIM:613353
Natalie Forrester (SWGLH - Bristol Genetics)
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
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)
Variants in this GENE are reported as part of current diagnostic practice
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mary Reilly (Institute of Neurology)
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)
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
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- South West GLH
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Expert list
- London North GLH
- Illumina TruGenome Clinical Sequencing Services
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
- Phenotypes
-
- Charcot-Marie-Tooth disease, type 4C, OMIM:601596
- Mononeuropathy of the median nerve, mild, OMIM:613353
- OMIM
- 608206
- Clinvar variants
- Variants in SH3TC2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Mafalda Gomes (Genomics England Curator)Tag Q2_22_MOI was removed from gene: SH3TC2.
Set mode of inheritance
Mafalda Gomes (Genomics England Curator)Mode of inheritance for gene SH3TC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SH3TC2 were changed from Charcot Marie Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353 to Charcot-Marie-Tooth disease, type 4C, OMIM:601596; Mononeuropathy of the median nerve, mild, OMIM:613353
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_22_MOI tag was added to gene: SH3TC2.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SH3TC2 was added gene: SH3TC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SH3TC2 were set to 19805030 Phenotypes for gene: SH3TC2 were set to Charcot Marie Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353