Hereditary neuropathy

Gene: SOX10

Green List (high evidence)

The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.

Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.

Panel Version: 1.352

Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.

Created: 11 Jun 2019, 1:40 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.

I don't know

2 patients tested in Bristol with frameshift variants and phenotype specifically described PCWH (peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease) - no family testing. Not pure neuropathy gene but this does appear to be a feature. PMID: 21898658 - several cases with PCWH

Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Waardenburg syndrome, type 4C, 613266

Publications

• 21898658

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

I don't know

Green List (high evidence)

Complex phenotype

Created: 9 Dec 2015, 8:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease.

Complex phenotype

Created: 8 Dec 2015, 3:06 p.m.