SOX10

SRY-box transcription factor 10
OMIM: 602229, ClinGen, DECIPHER

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Red SOX10 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes PCWH syndrome, MIM#609136 Waardenburg syndrome, type 2E, with or without neurologic involvement, MIM#611584
Green SOX10 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Kallman syndrome PCWH syndrome (MIM#609136) Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584) Waardenburg syndrome, type 4C (MIM#613266)
Green SOX10 in Hirschsprung disease Level 2: Gastroenterological disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SOX10 in Mendeliome Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Kallman syndrome PCWH syndrome (MIM#609136) Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584) Waardenburg syndrome, type 4C (MIM#613266)
Green SOX10 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes PCWH syndrome (MIM#609136) Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584) Waardenburg syndrome, type 4C (MIM#613266)
Green SOX10 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Peripheral demyelinating neuropathy Central demyelination, Waardenburg and Hirschsprung disease, OMIM #609136 Waardenburg syndrome, type 2E, with or without neurologic involvement (OMIM #611584)
Green SOX10 in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Phenotypes peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE General Leukodystrophy & Mitochondrial Leukoencephalopathy
Amber SOX10 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Neurocristopathy PCWH syndrome, MIM#609136 Complicated hereditary spastic paraplegia
Green SOX10 in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes PCWH Syndrome (MIM#609136 MONDO:0012198) Waardenburg syndrome, type 4C, 613266 Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 HMSN
Green SOX10 in Gastrointestinal neuromuscular disease Level 2: Gastroenterological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes PCWH syndrome, MIM# 609136
Green SOX10 in Pituitary hormone deficiency Level 3: Pituitary disorders Level 2: Endocrine disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Expert Review Expert Review Phenotypes Kallman syndrome PCWH syndrome (MIM#609136) Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584) Waardenburg syndrome, type 4C (MIM#613266)
Green SOX10 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Shah-Waardenburg syndrome
Green SOX10 in Fetal anomalies Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes PCWH syndrome (MIM#609136) Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584) Waardenburg syndrome, type 4C (MIM#613266)
Red SOX10 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Shah-Waardenburg syndrome
Green SOX10 in Hereditary Pigmentary Disorders Level 2: Dermatological disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Waardenburg syndrome type 4C MONDO:0013202
Green SOX10 in Hypogonadotropic hypogonadism Level 3: Pituitary disorders Level 2: Endocrine disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Expert Review Phenotypes Kallman syndrome PCWH syndrome (MIM#609136) Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584) Waardenburg syndrome, type 4C (MIM#613266)