Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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10 actions
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| Likely inborn error of metabolism v1.70 | PGAM2 | Sarah Leigh Classified gene: PGAM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.70 | PGAM2 | Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.70 | PGAM2 | Sarah Leigh Gene: pgam2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.70 | PGAM2 | Sarah Leigh Classified gene: PGAM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.70 | PGAM2 | Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.70 | PGAM2 | Sarah Leigh Gene: pgam2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.69 | PGAM2 | Sarah Leigh Publications for gene: PGAM2 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.68 | PGAM2 | Sarah Leigh Phenotypes for gene: PGAM2 were changed from Glycogen storage disease type X (Glycogen storage disorders); Rhabdomyolysis and metabolic muscle disorders to Glycogen storage disease X 261670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.47 | PGAM2 |
Ivone Leong Source NHS GMS was added to PGAM2. Source London North GLH was added to PGAM2. |
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| Likely inborn error of metabolism v0.4 | PGAM2 |
Ellen McDonagh gene: PGAM2 was added gene: PGAM2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PGAM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAM2 were set to 27604308 Phenotypes for gene: PGAM2 were set to Glycogen storage disease type X (Glycogen storage disorders); Rhabdomyolysis and metabolic muscle disorders |
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