Activity
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14 actions
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| Hereditary neuropathy or pain disorder v6.148 | FLVCR1 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: FLVCR1. Tag Q3_24_NHS_review was removed from gene: FLVCR1. |
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| Hereditary neuropathy or pain disorder v6.148 | FLVCR1 | Sarah Leigh edited their review of gene: FLVCR1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | FLVCR1 |
Sarah Leigh Source Expert Review Green was added to FLVCR1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v6.104 | FLVCR1 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: FLVCR1. Tag Q3_24_NHS_review tag was added to gene: FLVCR1. |
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| Hereditary neuropathy or pain disorder v6.104 | FLVCR1 | Sarah Leigh reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.104 | FLVCR1 | Sarah Leigh Phenotypes for gene: FLVCR1 were changed from Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033 to Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033; posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.103 | FLVCR1 | Sarah Leigh Phenotypes for gene: FLVCR1 were changed from Ataxia, posterior column, with retinitis pigmentosa, 609033; Retinitis pigmentosa, sensory ganglionopathy and abnormal posterior columns on MRI to Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.102 | FLVCR1 | Sarah Leigh Publications for gene: FLVCR1 were set to 21070897 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | FLVCR1 | Alexander Rossor edited their review of gene: FLVCR1: Added comment: Multiple additional reports of association with neuropathy. Now R78 includes complex phenotypes should be included; Changed publications to: 21070897: 38405817: 32822874: 28766925: 37469134: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.56 | FLVCR1 | Louise Daugherty commented on gene: FLVCR1: 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 & RP. Agree more suited to ataxia panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.56 | FLVCR1 | Louise Daugherty Classified gene: FLVCR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.56 | FLVCR1 | Louise Daugherty Added comment: Comment on list classification: 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 v0.56 | FLVCR1 | Louise Daugherty Gene: flvcr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.1 | FLVCR1 |
Ellen McDonagh gene: FLVCR1 was added gene: FLVCR1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLVCR1 were set to 21070897 Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, 609033; Retinitis pigmentosa, sensory ganglionopathy and abnormal posterior columns on MRI |
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