Hereditary neuropathy
Gene: SOX10
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.
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 PCWHCreated: 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
Variants in this GENE are reported as part of current diagnostic practice
Complex phenotypeCreated: 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 phenotypeCreated: 8 Dec 2015, 3:06 p.m.
Source Expert Review Green was added to SOX10. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source London North GLH was added to SOX10.
Phenotypes for gene: SOX10 were changed from Waardenburg syndrome, type 4C, 613266; PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 to Waardenburg syndrome, type 4C, 613266; PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease
Mode of inheritance for gene: SOX10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Waardenburg syndrome, type 4C, 613266; PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 for gene: SOX10 Publications for gene SOX10 were changed from to 21898658
Source NHS GMS was added to SOX10.
Source South West GLH was added to SOX10.
SOX10 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN
SOX10 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN