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| Hereditary neuropathy or pain disorder v3.87 | PDXK | Achchuthan Shanmugasundram Classified gene: PDXK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.87 | PDXK | Achchuthan Shanmugasundram Gene: pdxk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.86 | PDXK | Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: PDXK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.86 | PDXK |
Achchuthan Shanmugasundram gene: PDXK was added gene: PDXK was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for gene: PDXK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDXK were set to 31187503; 32522499 Phenotypes for gene: PDXK were set to Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy, OMIM:618511 Review for gene: PDXK was set to GREEN Added comment: PMID:31187503 - Five individuals from two unrelated families were reported with biallelic PDXK variants and with primary axonal polyneuropathy and optic atrophy. This association was also supported by results from cell-based functional assays. The biochemical profile can be rescued with PLP supplementation associated with clinical improvement. PMID:32522499 - Two affected siblings with a novel biallelic missense PDXK variant were reported with a similar phenotype as reported in PMID:31187503 with earlier onset. Functional analysis showed that this variant leads to almost complete loss of PDXK enzymatic activity and low PLP levels. This gene has been associated with relevant phenotypes in OMIM (MIM #618511), but not yet in Gene2Phenotype. Sources: Literature |
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| Hereditary neuropathy or pain disorder v3.83 | XK | Alexander Rossor commented on gene: XK: Should be included in R78 as now inlcudes many other complex phenotype genes that can present with neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.86 | XK | Louise Daugherty commented on gene: XK: 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: McLeod syndrome, note adult onset | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.84 | XK | Louise Daugherty commented on gene: XK: 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 | XK |
Louise Daugherty Source Expert Review Amber was added to XK. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Hereditary neuropathy or pain disorder v0.1 | XK |
Ellen McDonagh gene: XK was added gene: XK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: XK were set to Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy; McLeod syndrome with or without chronic granulomatous disease, 300842 |
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