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Hereditary neuropathy or pain disorder v6.148 ETFDH Sarah Leigh Tag Q3_24_promote_green was removed from gene: ETFDH.
Tag Q3_24_NHS_review was removed from gene: ETFDH.
Hereditary neuropathy or pain disorder v6.148 ETFDH Sarah Leigh commented on gene: ETFDH: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v6.147 ETFDH Sarah Leigh Source Expert Review Green was added to ETFDH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v6.75 ETFDH Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ETFDH.
Tag Q3_24_NHS_review tag was added to gene: ETFDH.
Hereditary neuropathy or pain disorder v6.75 ETFDH Sarah Leigh reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.75 ETFDH Sarah Leigh Publications for gene: ETFDH were set to 32608139; 26821934; 0587156
Hereditary neuropathy or pain disorder v6.74 ETFDH Sarah Leigh Phenotypes for gene: ETFDH were changed from Glutaric acidemia IIC, 231680; Neonatal and late onset forms. hypoglycaemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occur. Riboflavin responsive to Glutaric acidemia IIC, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Hereditary neuropathy or pain disorder v6.73 ETFDH Sarah Leigh Publications for gene: ETFDH were set to
Hereditary neuropathy or pain disorder v5.19 ETFDH Alexander Rossor edited their review of gene: ETFDH: Added comment: multiple families with neuropathy as part of syndrome, Now R78 includes complex phenotypes should be included; Changed publications to: 32608139: 26821934: 0587156
Hereditary neuropathy or pain disorder v0.52 ETFDH Louise Daugherty commented on gene: ETFDH: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Broader phenotype: Glutaric acidemia IIc - minor feature
Hereditary neuropathy or pain disorder v0.52 ETFDH Louise Daugherty Classified gene: ETFDH as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.52 ETFDH 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 v0.52 ETFDH Louise Daugherty Gene: etfdh has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.1 ETFDH Ellen McDonagh gene: ETFDH was added
gene: ETFDH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, 231680; Neonatal and late onset forms. hypoglycaemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occur. Riboflavin responsive