Genes in panel

Hereditary neuropathy

Gene: SOX10

Green List (high evidence)

SOX10 (SRY-box 10)
EnsemblGeneIds (GRCh38): ENSG00000100146
EnsemblGeneIds (GRCh37): ENSG00000100146
OMIM: 602229, Gene2Phenotype
SOX10 is in 16 panels

5 reviews

Louise Daugherty (Genomics England Curator)

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.

Natalie Forrester (SWGLH - Bristol Genetics)

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

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

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

I don't know

Alexander Rossor (UCL Institute of Neurology)

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.

Mary Reilly (Institute of Neurology)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
  • UKGTN
  • Expert list
Phenotypes
  • 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
OMIM
602229
Clinvar variants
Variants in SOX10
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Dec 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SOX10. Rating Changed from Red List (low evidence) to Green List (high evidence)

6 Jun 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SOX10.

5 Jun 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

29 Apr 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: SOX10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

29 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SOX10.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to SOX10.

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SOX10 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SOX10 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN