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Hereditary neuropathy or pain disorder v6.148 ERCC8 Sarah Leigh Tag Q3_24_promote_green was removed from gene: ERCC8.
Tag Q3_24_NHS_review was removed from gene: ERCC8.
Hereditary neuropathy or pain disorder v6.148 ERCC8 Sarah Leigh edited their review of gene: ERCC8: 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 ERCC8 Sarah Leigh Source Expert Review Green was added to ERCC8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v6.72 ERCC8 Sarah Leigh Publications for gene: ERCC8 were set to 7664335; 9338586; 21108394; 14661080; 15744458; 25453614
Hereditary neuropathy or pain disorder v6.71 ERCC8 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ERCC8.
Tag Q3_24_NHS_review tag was added to gene: ERCC8.
Hereditary neuropathy or pain disorder v6.71 ERCC8 Sarah Leigh reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v6.71 ERCC8 Sarah Leigh Phenotypes for gene: ERCC8 were changed from Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities; Cockayne syndrome, type A, 216400 to Cockayne syndrome, type A, OMIM:216400; Cockayne syndrome type 1, MONDO:0019569
Hereditary neuropathy or pain disorder v6.70 ERCC8 Sarah Leigh Publications for gene: ERCC8 were set to 25453614
Hereditary neuropathy or pain disorder v6.69 ERCC8 Sarah Leigh Publications for gene: ERCC8 were set to
Hereditary neuropathy or pain disorder v5.19 ERCC8 Alexander Rossor edited their review of gene: ERCC8: Added comment: now that R78 includes complex phenotypes sould be included; Changed publications to: 25453614
Hereditary neuropathy or pain disorder v0.51 ERCC8 Louise Daugherty commented on gene: ERCC8: 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 v0.51 ERCC8 Louise Daugherty Classified gene: ERCC8 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.51 ERCC8 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 v0.51 ERCC8 Louise Daugherty Gene: ercc8 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.1 ERCC8 Ellen McDonagh gene: ERCC8 was added
gene: ERCC8 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities; Cockayne syndrome, type A, 216400