Hereditary Spastic Paraplegia - paediatric
Gene: SOX10
PCWH syndrome is a complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease. One family reported with spasticity.Created: 20 Sep 2020, 6:52 a.m. | Last Modified: 20 Sep 2020, 6:52 a.m.
Panel Version: 0.134
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PCWH syndrome, MIM# 609136
Publications
Gene: sox10 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: SOX10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: sox10 has been classified as Amber List (Moderate Evidence).
gene: SOX10 was added gene: SOX10 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX10 were set to 28534044 Phenotypes for gene: SOX10 were set to Neurocristopathy; PCWH syndrome, MIM#609136; Complicated hereditary spastic paraplegia