SOX10

SRY-box 10
OMIM: 602229, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green SOX10 in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Other
  • Alder Hey - Erasmus MC
Phenotypes
  • Waardenburg syndrome with Hirschsprung disease (WS4C), 613266
  • PCWH syndrome, 609136 (includes Hirschsprung disease, long-segment)
  • Waardenburg syndrome, type 4C, 613266
  • Waardenburg Syndrome
  • PCWH Syndrome

Green SOX10 in Gastrointestinal neuromuscular disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.14

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Waardenburg syndrome, type 4C 613266

Green SOX10 in White matter disorders and cerebral calcification - narrow panel


Version 1.181
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
    • peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy

    Green SOX10 in Deafness and congenital structural abnormalities

    Level 3: Deafness and congenital structural abnormalities
    Level 2: Hearing and ear disorders
    Version 1.17

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    Phenotypes
    • Vestibular/semicircular canal dysplasia
    • PCWH syndrome
    • Waardenburg syndrome, type 2E, with or without neurologic involvement
    • Waardenburg syndrome, type 4C

    Green SOX10 in Pigmentary skin disorders


    Version 1.10
    Latest signed off version: v1.4 (15 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • PCWH, WAARDENBURG SYNDROME, TYPE 4C
    • Waardenburg syndrome
    • PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
    • WS4C, WAARDENBURG SYNDROME, TYPE 2E
    • WS2E

    Green SOX10 in Hypogonadotropic hypogonadism

    Level 3: Hypothalamic and pituitary disorders
    Level 2: Endocrine disorders
    Version 1.32

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert Review Green
    • Literature
    • Other
    Phenotypes
    • Waardenburg syndrome, type 4C 613266

    Amber SOX10 in Hypogonadotropic hypogonadism idiopathic


    Version 1.42
    Latest signed off version: v1.4 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • South West GLH
    Phenotypes
    • Waardenburg syndrome type 4C, OMIM:611584
    • Waardenburg syndrome, type 2E, with or without neurologic involvement, OMIM:611584
    • congenital hypogonadotropic hypogonadism, MONDO:0015770
    Tags
    • Q2_21_rating

    Green SOX10 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.126

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy
    • PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE

    Green SOX10 in Disorders of sex development

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 2.47
    Latest signed off version: v2.2 (3 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Waardenburg syndrome, type 4C 613266

    Green SOX10 in Fetal anomalies


    Version 1.678
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
    • KALLMANN SYNDROME WITH DEAFNESS
    • YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME
    • WAARDENBURG SYNDROME TYPE 4C
    • WAARDENBURG SYNDROME TYPE 2E

    Red SOX10 in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.23
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • NHS GMS
    Phenotypes
    • Hirschsprung disease
    • Waardenburg syndrome
    • Peripheral demyelinating neuropathy
    • central dysmyelination

    Green SOX10 in DDG2P


    Version 2.28
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • WAARDENBURG SYNDROME TYPE 2E 611584
    • KALLMANN SYNDROME WITH DEAFNESS
    • WAARDENBURG SYNDROME TYPE 4C 613266
    • YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME 601706
    • PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE 609136

    Green SOX10 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.385

    review 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

    Green SOX10 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.175
    Latest signed off version: v2.5 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Waardenburg syndrome, type 4C, 613266
    • #609136:PCWH syndrome
    • #611584:Waardenburg syndrome, type 2E, with or without neurologic involvement

    Green SOX10 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1136
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Waardenburg syndrome, type 4C, 613266Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584PCWH syndrome, 609136
    • PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (PCWH)

    Amber SOX10 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.27
    Latest signed off version: v1.2 (27 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • South West GLH
    • UKGTN
    • Expert list
    • London North GLH
    • NHS GMS
    • London North GLH
    • NHS GMS
    • South West GLH
    Phenotypes
    • Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584
    • Waardenburg syndrome, type 4C, 613266
    • PCWH syndrome, 609136
    • Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease

    Green SOX10 in Severe Paediatric Disorders


    Version 1.78

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • PCWH syndrome, 609136
    • Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584
    • Waardenburg syndrome, type 4C, 613266