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Hereditary neuropathy or pain disorder v6.148 TTPA Sarah Leigh Tag Q3_24_promote_green was removed from gene: TTPA.
Tag Q3_24_NHS_review was removed from gene: TTPA.
Hereditary neuropathy or pain disorder v6.148 TTPA Sarah Leigh commented on gene: TTPA: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v6.147 TTPA Sarah Leigh Source Expert Review Green was added to TTPA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v6.108 TTPA Sarah Leigh Tag Q3_24_promote_green tag was added to gene: TTPA.
Tag Q3_24_NHS_review tag was added to gene: TTPA.
Hereditary neuropathy or pain disorder v6.108 TTPA Sarah Leigh reviewed gene: TTPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.108 TTPA Sarah Leigh Phenotypes for gene: TTPA were changed from Hereditary Neuropathies; Early onset ataxia and sensory axonal neuropathy similar to Friedreich ataxia, head titubation, normal fat absorption unlike abetalipoproteinaemia, rarely retinitis pigmentosa to Ataxia with isolated vitamin E deficiency, OMIM:277460; familial isolated deficiency of vitamin E MONDO:0010188
Hereditary neuropathy or pain disorder v6.107 TTPA Sarah Leigh Publications for gene: TTPA were set to
Hereditary neuropathy or pain disorder v5.19 TTPA Alexander Rossor edited their review of gene: TTPA: Added comment: Eripheral neuropathy well established part of this complex phenotype. Now that R78 inlcudes complex phenotypes this gene should be included; Changed publications to: 24369383
Hereditary neuropathy or pain disorder v0.86 TTPA Louise Daugherty commented on gene: TTPA: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - ataxia with neuropathy / Broader phenotype: ataxia with vitamin E deficiency More likely to present as ataxia on ataxia panel
Hereditary neuropathy or pain disorder v0.84 TTPA Louise Daugherty commented on gene: TTPA: 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 TTPA Louise Daugherty Source Expert Review Amber was added to TTPA.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.1 TTPA Ellen McDonagh gene: TTPA was added
gene: TTPA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Hereditary Neuropathies; Early onset ataxia and sensory axonal neuropathy similar to Friedreich ataxia, head titubation, normal fat absorption unlike abetalipoproteinaemia, rarely retinitis pigmentosa