Likely inborn error of metabolism - targeted testing not possible
Gene: PGAM2Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases.Created: 24 Jul 2019, 4:49 p.m. | Last Modified: 24 Jul 2019, 4:49 p.m.
Panel Version: 1.70
Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases.Created: 24 Jul 2019, 4:48 p.m. | Last Modified: 24 Jul 2019, 4:48 p.m.
Panel Version: 1.70
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhabdomyolysis and metabolic muscle disorders
Publications
Gene: pgam2 has been classified as Green List (High Evidence).
Gene: pgam2 has been classified as Green List (High Evidence).
Publications for gene: PGAM2 were set to 27604308
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
Source NHS GMS was added to PGAM2. Source London North GLH was added to PGAM2.
Sarah Leigh: Associated with relevant pheno
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