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Hereditary neuropathy or pain disorder v6.148 FAM126A Sarah Leigh Tag Q3_24_promote_green was removed from gene: FAM126A.
Tag Q3_24_NHS_review was removed from gene: FAM126A.
Hereditary neuropathy or pain disorder v6.148 FAM126A Sarah Leigh commented on gene: FAM126A: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v6.147 FAM126A Sarah Leigh Source Expert Review Green was added to FAM126A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v6.101 FAM126A Sarah Leigh Tag Q3_24_promote_green tag was added to gene: FAM126A.
Tag Q3_24_NHS_review tag was added to gene: FAM126A.
Hereditary neuropathy or pain disorder v6.101 FAM126A Sarah Leigh reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.101 FAM126A Sarah Leigh Publications for gene: FAM126A were set to 16951682; 23998934; 21911699; 33531944; 22749724:
Hereditary neuropathy or pain disorder v6.92 FAM126A Sarah Leigh Publications for gene: FAM126A were set to 16951682
Hereditary neuropathy or pain disorder v6.91 FAM126A Sarah Leigh Phenotypes for gene: FAM126A were changed from Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV; Leukodystrophy, hypomyelinating, 5, 610532 to Leukodystrophy, hypomyelinating, 5, OMIM:610532; hypomyelinating leukodystrophy 5, MONDO:0012514
Hereditary neuropathy or pain disorder v5.19 FAM126A Alexander Rossor edited their review of gene: FAM126A: Added comment: Multiple unrelated patients with peripheralneuropathy. Now that R78 includes complex phneotypes needs to be included; Changed publications to: 16951682: 23998934: 21911699: 33531944: 22749724:
Hereditary neuropathy or pain disorder v1.105 FAM126A Eleanor Williams commented on gene: FAM126A
Hereditary neuropathy or pain disorder v1.105 FAM126A Eleanor Williams Tag new-gene-name tag was added to gene: FAM126A.
Hereditary neuropathy or pain disorder v0.54 FAM126A Louise Daugherty commented on gene: FAM126A: 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: leukodystrophy
Hereditary neuropathy or pain disorder v0.54 FAM126A Louise Daugherty Classified gene: FAM126A as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.54 FAM126A 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 v0.54 FAM126A Louise Daugherty Gene: fam126a has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.1 FAM126A Ellen McDonagh gene: FAM126A was added
gene: FAM126A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM126A were set to 16951682
Phenotypes for gene: FAM126A were set to Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV; Leukodystrophy, hypomyelinating, 5, 610532