Activity
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13 actions
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| Hereditary neuropathy or pain disorder v7.5 | RCC1 | Arina Puzriakova Phenotypes for gene: RCC1 were changed from to Severe, acute-onset axonal neuropathy following infection | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.4 | RCC1 |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: RCC1. Tag Q3_25_NHS_review tag was added to gene: RCC1. |
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| Hereditary neuropathy or pain disorder v7.4 | RCC1 | Arina Puzriakova Publications for gene: RCC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.3 | RCC1 | Arina Puzriakova Classified gene: RCC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.3 | RCC1 |
Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - number of cases with the same phenotype and functional support. At least 12 unrelated families reported (PMID: 40683276) with biallelic variants in this gene associated with severe, acute-onset axonal neuropathy following infection. Eight different missense variants were identified. In vitro studies indicate that variants reduced the thermal stability of the RCC1 protein and some variants decreased GDP-to-GTP exchange activity. Patient fibroblasts under stress, revealed defects in Ran nuclear localisation and impaired nucleocytoplasmic transport. A Drosophila model demonstrated that altered Rcc1 function leads to fatal intolerance to oxidative stress. |
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| Hereditary neuropathy or pain disorder v7.3 | RCC1 | Arina Puzriakova Gene: rcc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.2 | RCC1 | Cassandra Smith reviewed gene: RCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40683276; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.167 | RCC1 |
Lauren Turton gene: RCC1 was added gene: RCC1 was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS Mode of inheritance for gene: RCC1 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: RCC1 was set to AMBER Added comment: Present in medrxiv, https://www.medrxiv.org/content/10.1101/2024.10.04.24314535v1. As not formally published left as amber rating. 24 individuals from 12 families with acute onset axonal neuropathy. Very severe disease in acutely unwell children. Neurological presentation was secondary to infection. Sources: NHS GMS |
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| Hereditary neuropathy or pain disorder v1.29 | XRCC1 | Arina Puzriakova Phenotypes for gene: XRCC1 were changed from Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy; Spinocerebellar ataxia, autosomal recessive 26, 617633 to Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.86 | XRCC1 | Louise Daugherty commented on gene: XRCC1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope but limited evidence / Broader phenotype: SCA26, 2 cases in OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.84 | XRCC1 | Louise Daugherty commented on gene: XRCC1: 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 | XRCC1 |
Louise Daugherty Source Expert Review Amber was added to XRCC1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Hereditary neuropathy or pain disorder v0.1 | XRCC1 |
Ellen McDonagh gene: XRCC1 was added gene: XRCC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XRCC1 were set to 29472272; 28002403 Phenotypes for gene: XRCC1 were set to Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy; Spinocerebellar ataxia, autosomal recessive 26, 617633 |
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