Hereditary Neuropathy - complex
Gene: SOX10
PWCH Syndrome (- peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease) is a complex neurocristopathy that includes features of 4 distinct syndromes.
PMID: 15004559
4 unrelated individuals with clinical phenotype consistent with PCWH syndrome. All four individuals had a neuropathy phenotype that was confirmed by nerve biopsy and nerve conduction study.Created: 9 Aug 2023, 5:16 a.m. | Last Modified: 9 Aug 2023, 5:16 a.m.
Panel Version: 0.237
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PCWH Syndrome (MIM#609136; MONDO:0012198)
Publications
Gene: sox10 has been classified as Green List (High Evidence).
Phenotypes for gene: SOX10 were changed from PCWH syndrome, 609136; 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 to 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
Publications for gene: SOX10 were set to
gene: SOX10 was added gene: SOX10 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX10 were set to PCWH syndrome, 609136; 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