Activity
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14 actions
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| Hereditary neuropathy or pain disorder v6.148 | ERCC6 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: ERCC6. Tag Q3_24_NHS_review was removed from gene: ERCC6. |
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| Hereditary neuropathy or pain disorder v6.148 | ERCC6 | Sarah Leigh commented on gene: ERCC6: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | ERCC6 |
Sarah Leigh Source Expert Review Green was added to ERCC6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v6.68 | ERCC6 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ERCC6. Tag Q3_24_NHS_review tag was added to gene: ERCC6. |
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| Hereditary neuropathy or pain disorder v6.68 | ERCC6 | Sarah Leigh reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.68 | ERCC6 | Sarah Leigh Publications for gene: ERCC6 were set to 25453614 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.67 | ERCC6 | Sarah Leigh Publications for gene: ERCC6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.66 | ERCC6 | Sarah Leigh Phenotypes for gene: ERCC6 were changed from Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities; Cockayne syndrome, type B, 133540 to Cockayne syndrome, type B, OMIM:133540; Cockayne syndrome type 2, MONDO:0019570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | ERCC6 | Alexander Rossor edited their review of gene: ERCC6: Added comment: now that R78 includes complex pheotypes should be included; Changed publications to: 25453614 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.50 | ERCC6 | Louise Daugherty commented on gene: ERCC6: 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 - Cockayne syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.50 | ERCC6 | Louise Daugherty Classified gene: ERCC6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.50 | ERCC6 | 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 v0.50 | ERCC6 | Louise Daugherty Gene: ercc6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.1 | ERCC6 |
Ellen McDonagh gene: ERCC6 was added gene: ERCC6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6 were set to Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities; Cockayne syndrome, type B, 133540 |
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