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| Hereditary Neuropathy - complex v0.251 | SOX10 | Zornitza Stark Marked gene: SOX10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.251 | SOX10 | Zornitza Stark Gene: sox10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.251 | SOX10 | Zornitza Stark 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.250 | SOX10 | Zornitza Stark Publications for gene: SOX10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.237 | SOX10 | Sangavi Sivagnanasundram reviewed gene: SOX10: Rating: AMBER; Mode of pathogenicity: None; Publications: 15004559; Phenotypes: PCWH Syndrome (MIM#609136, MONDO:0012198); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.0 | SOX10 |
Bryony Thompson 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 |
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