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| Rhabdomyolysis and metabolic muscle disorders v4.4 | PNPLA2 | Arina Puzriakova Tag Q4_23_promote_green was removed from gene: PNPLA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v4.3 | PNPLA2 | Arina Puzriakova reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v4.2 | PNPLA2 |
Arina Puzriakova Source Expert Review Green was added to PNPLA2. Source NHS GMS was added to PNPLA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Rhabdomyolysis and metabolic muscle disorders v3.42 | PNPLA2 | Achchuthan Shanmugasundram Classified gene: PNPLA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.42 | PNPLA2 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: There are sufficient number of cases associating biallelic PNPLA2 variants to muscle and upper and lower limb weakness and dystrophy of shoulder girdle. Hence, this gene can be promoted to GREEN in this panel at the next GMS update. This gene has also been associated with phenotypes in both OMIM (MIM #610717) and Gene2Phenotype (with 'strong' rating in DD panel). |
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| Rhabdomyolysis and metabolic muscle disorders v3.42 | PNPLA2 | Achchuthan Shanmugasundram Gene: pnpla2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.41 | PNPLA2 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.41 | PNPLA2 | Achchuthan Shanmugasundram Phenotypes for gene: PNPLA2 were changed from Neutral lipid storage disease with myopathy 610717 to Neutral lipid storage disease with myopathy, OMIM:610717 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.40 | PNPLA2 |
Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: PNPLA2. Tag Q4_23_promote_green tag was added to gene: PNPLA2. |
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| Rhabdomyolysis and metabolic muscle disorders v3.40 | PNPLA2 | Achchuthan Shanmugasundram Entity copied from Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.24 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.40 | PNPLA2 |
Achchuthan Shanmugasundram gene: PNPLA2 was added gene: PNPLA2 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review Amber Q2_23_promote_green tags were added to gene: PNPLA2. Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA2 were set to 18952067; 21544567; 25956450; 32269696 Phenotypes for gene: PNPLA2 were set to Neutral lipid storage disease with myopathy 610717 |
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