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Hereditary neuropathy or pain disorder v6.148 SOX10 Sarah Leigh Tag Q3_24_promote_green was removed from gene: SOX10.
Tag Q3_24_NHS_review was removed from gene: SOX10.
Hereditary neuropathy or pain disorder v6.148 SOX10 Sarah Leigh reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v6.147 SOX10 Sarah Leigh Source Expert Review Green was added to SOX10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v6.113 SOX10 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available (more than six unrelated cases) for the association of monoallelic SOX10 variants with demyelinating peripheral neuropathy. Hence, this gene can be promoted to green rating on the next GMS update.; to: Comment on list classification: There is sufficient evidence available (more than six unrelated cases) for the association of monoallelic SOX10 variants with demyelinating peripheral neuropathy. Hence, this gene can be promoted to green rating in the next GMS update.
Hereditary neuropathy or pain disorder v6.113 SOX10 Achchuthan Shanmugasundram Deleted their comment
Hereditary neuropathy or pain disorder v6.113 SOX10 Achchuthan Shanmugasundram Classified gene: SOX10 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.113 SOX10 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (more than six unrelated cases) for the association of monoallelic SOX10 variants with demyelinating peripheral neuropathy. Hence, this gene can be promoted to green rating on the next GMS update.
Hereditary neuropathy or pain disorder v6.113 SOX10 Achchuthan Shanmugasundram Gene: sox10 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.112 SOX10 Achchuthan Shanmugasundram Classified gene: SOX10 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.112 SOX10 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (more than six unrelated cases) for the association of monoallelic SOX10 variants with demyelinating peripheral neuropathy. Hence, this gene can be promoted to green rating on the next GMS update.
Hereditary neuropathy or pain disorder v6.112 SOX10 Achchuthan Shanmugasundram Gene: sox10 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.111 SOX10 Achchuthan Shanmugasundram Phenotypes for gene: SOX10 were changed from Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Waardenburg syndrome, type 4C, 613266; PCWH syndrome, 609136; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease to PCWH syndrome, OMIM:609136
Hereditary neuropathy or pain disorder v6.110 SOX10 Achchuthan Shanmugasundram Publications for gene: SOX10 were set to 21898658
Hereditary neuropathy or pain disorder v6.109 SOX10 Achchuthan Shanmugasundram Mode of inheritance for gene: SOX10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v6.108 SOX10 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SOX10.
Tag Q3_24_NHS_review tag was added to gene: SOX10.
Hereditary neuropathy or pain disorder v6.108 SOX10 Achchuthan Shanmugasundram reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 15004559, 29681101, 32150337; Phenotypes: PCWH syndrome, OMIM:609136; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v5.19 SOX10 Alexander Rossor edited their review of gene: SOX10: Added comment: now that r78 inclues complex phenotpyes should presumably be included; Changed publications to: 32150337: 29681101: 28328136
Hereditary neuropathy or pain disorder v0.86 SOX10 Louise Daugherty commented on gene: SOX10: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broader phenotype: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH (Shah-Waardenburg syndrome, neurologic variant)
Hereditary neuropathy or pain disorder v0.84 SOX10 Louise Daugherty commented on gene: SOX10: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.83 SOX10 Louise Daugherty Source Expert Review Amber was added to SOX10.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.1 SOX10 Ellen McDonagh gene: SOX10 was added
gene: SOX10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,South West GLH
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX10 were set to 21898658
Phenotypes for gene: SOX10 were set to Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Waardenburg syndrome, type 4C, 613266; PCWH syndrome, 609136; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease