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| Hereditary neuropathy or pain disorder v0.86 | PTRH2 | Louise Daugherty commented on gene: PTRH2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope but limited evidence / Broad phenotype but limited evidence? Only 2 cases in OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.84 | PTRH2 | Louise Daugherty commented on gene: PTRH2: 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 | PTRH2 |
Louise Daugherty Source Expert Review Amber was added to PTRH2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Hereditary neuropathy or pain disorder v0.1 | PTRH2 |
Ellen McDonagh gene: PTRH2 was added gene: PTRH2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTRH2 were set to 25572476; 25558065 Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263; Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy |
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