Activity
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10 actions
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| Acute rhabdomyolysis v2.8 | AMPD1 | Arina Puzriakova Classified gene: AMPD1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v2.8 | AMPD1 | Arina Puzriakova Gene: ampd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v2.7 | AMPD1 |
Arina Puzriakova Tag Q3_25_expert_review was removed from gene: AMPD1. Tag Q3_25_demote_red was removed from gene: AMPD1. |
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| Acute rhabdomyolysis v2.7 | AMPD1 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v2.2 | AMPD1 | Arina Puzriakova Classified gene: AMPD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v2.2 | 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 (below), 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. Copied from Zornitza Stark (Australian Genomics) review on Rhabdomyolysis and metabolic muscle disorders (66) panel (v3.35): Variable age of onset ranging from infancy to adulthood (OMIM), however, no new publications supporting gene disease association. PMID: 21343608: Reported an infancy presenting with congenital hypotonia and muscle weakness. Variant reported in as VUS in ClinVar (as Q45*) and present in gnomad (1470 homozygotes) PMID: 11102975: Adult patient reported however variants reported R425H (also R458H) present in gnomad (3 homozygotes) and R388W (also R421W) present in gnomad (2 homozygotes). The observation of a high number of homozygotes in gnomad together with the absence of new reports raises significant concerns about the pathogenicity of these variants. |
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| Acute rhabdomyolysis v2.2 | AMPD1 | Arina Puzriakova Gene: ampd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v2.1 | 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. |
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| Acute rhabdomyolysis v0.6 | AMPD1 | Arina Puzriakova reviewed gene: AMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v0.2 | AMPD1 |
Arina Puzriakova gene: AMPD1 was added gene: AMPD1 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD1 were set to 19258857; 15803807; 25929793; 11331279; 23543093 Phenotypes for gene: AMPD1 were set to Myopathy due to myoadenylate deaminase deficiency, OMIM:615511 |
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