Activity

Filter

Cancel
Date Panel Item Activity
22 actions
Rhabdomyolysis and metabolic muscle disorders v5.16 AMPD1 Eleanor Williams Tag Q3_25_expert_review was removed from gene: AMPD1.
Tag Q3_25_demote_red was removed from gene: AMPD1.
Rhabdomyolysis and metabolic muscle disorders v5.16 AMPD1 Eleanor Williams edited their review of gene: AMPD1: Added comment: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.; Changed rating: RED
Rhabdomyolysis and metabolic muscle disorders v5.15 AMPD1 Eleanor Williams Source Expert Review Red was added to AMPD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Rhabdomyolysis and metabolic muscle disorders v5.7 AMPD1 Arina Puzriakova Phenotypes for gene: AMPD1 were changed from Rhabdomyolysis; Myopathy due to myoadenylate deaminase deficiency 615511 to Myopathy due to myoadenylate deaminase deficiency, OMIM:615511
Rhabdomyolysis and metabolic muscle disorders v5.6 AMPD1 Arina Puzriakova Classified gene: AMPD1 as Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders v5.6 AMPD1 Arina Puzriakova Added comment: Comment on list classification: This gene was promoted to Green and added to the diagnostic panel, however as per review by Zornitza Stark, it has since come to light that several variants reported in patients have a high frequency in the general population, calling into question their pathogenicity. Hence, tagging for GMS expert review to determine whether this gene should be demoted on this panel.
Rhabdomyolysis and metabolic muscle disorders v5.6 AMPD1 Arina Puzriakova Gene: ampd1 has been classified as Green List (High Evidence).
Rhabdomyolysis and metabolic muscle disorders v5.5 AMPD1 Arina Puzriakova Tag Q3_25_expert_review tag was added to gene: AMPD1.
Tag Q3_25_demote_red tag was added to gene: AMPD1.
Rhabdomyolysis and metabolic muscle disorders v3.37 AMPD1 Eleanor Williams changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.
Rhabdomyolysis and metabolic muscle disorders v3.37 AMPD1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: AMPD1.
Tag Q3_23_NHS_review was removed from gene: AMPD1.
Rhabdomyolysis and metabolic muscle disorders v3.37 AMPD1 Eleanor Williams reviewed gene: AMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v3.36 AMPD1 Achchuthan Shanmugasundram Source Expert Review Green was added to AMPD1.
Source NHS GMS was added to AMPD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders v3.35 AMPD1 Zornitza Stark reviewed gene: AMPD1: Rating: RED; Mode of pathogenicity: None; Publications: 21343608, 27296017; Phenotypes: Myopathy due to myoadenylate deaminase deficiency (MIM#615511); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v3.8 AMPD1 Achchuthan Shanmugasundram Tag Q3_23_NHS_review tag was added to gene: AMPD1.
Rhabdomyolysis and metabolic muscle disorders v3.8 AMPD1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: AMPD1.
Rhabdomyolysis and metabolic muscle disorders v3.8 AMPD1 Achchuthan Shanmugasundram Classified gene: AMPD1 as Amber List (moderate evidence)
Rhabdomyolysis and metabolic muscle disorders v3.8 AMPD1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service.
Rhabdomyolysis and metabolic muscle disorders v3.8 AMPD1 Achchuthan Shanmugasundram Gene: ampd1 has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and metabolic muscle disorders v3.7 AMPD1 Achchuthan Shanmugasundram reviewed gene: AMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy due to myoadenylate deaminase deficiency, OMIM:615511; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders AMPD1 Sarah Leigh marked AMPD1 as ready
Rhabdomyolysis and metabolic muscle disorders AMPD1 Sarah Leigh commented on AMPD1
Rhabdomyolysis and metabolic muscle disorders AMPD1 Sarah Leigh classified AMPD1 as red