SOX10

SRY-box 10
OMIM: 602229, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green SOX10 in Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.11	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 1.30	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 Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	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 1.37	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 Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	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 1.42	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Expert Review Green Other Literature Phenotypes Waardenburg syndrome, type 4C 613266
Green SOX10 in Hypogonadotropic hypogonadism (GMS) Level 2: Endocrinology Version 4.7 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green 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
Green SOX10 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	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 Differences in sex development Level 2: Endocrinology Version 4.14 Latest signed off version: v4.5 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Waardenburg syndrome, type 4C 613266
Green SOX10 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	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 Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.3 Latest signed off version: v6.0 (30 Apr 2025)	review	Not set	Sources NHS GMS Phenotypes Hirschsprung disease Waardenburg syndrome Peripheral demyelinating neuropathy central dysmyelination
Green SOX10 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 1.506	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 Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	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 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	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)
Green SOX10 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH UKGTN Expert list London North GLH NHS GMS London North GLH NHS GMS South West GLH Phenotypes PCWH syndrome, OMIM:609136
Green SOX10 in Paediatric pseudo-obstruction syndrome Level 2: Gastrohepatology Version 2.5 Latest signed off version: v2.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes PCWH syndrome, OMIM:609136 Waardenburg syndrome, type 4C, OMIM:613266