Hereditary neuropathy

Gene: SH3TC2

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, 2:56 p.m. | Last Modified: 19 Apr 2022, 2:56 p.m.

Panel Version: 1.452

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

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

• 19805030

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

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.

Green List (high evidence)

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

Green List (high evidence)

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

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Green List (high evidence)

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.