Congenital myopathy
Gene: PYROXD1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
early-onset myopathy with internalized nuclei and myofibrillar disorganization
Publications
Comment on list classification: Upgraded rating from Amber to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81Created: 5 Dec 2019, 4:43 p.m. | Last Modified: 5 Dec 2019, 4:43 p.m.
Panel Version: 1.230
New gene suggested by Anna Sarkozy for inclusion on the congenital myopathy panel
Sources: Expert ReviewCreated: 2 Dec 2019, 12:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 8, 617258; myopathy
Publications
Phenotypes for gene: PYROXD1 were changed from Myopathy, myofibrillar, 8, 617258; myopathy; early-onset myopathy with internalized nuclei and myofibrillar disorganization to Myopathy, myofibrillar, 8, OMIM:617258
Gene: pyroxd1 has been classified as Green List (High Evidence).
Phenotypes for gene: PYROXD1 were changed from Myopathy, myofibrillar, 8, 617258; myopathy to Myopathy, myofibrillar, 8, 617258; myopathy; early-onset myopathy with internalized nuclei and myofibrillar disorganization
Gene: pyroxd1 has been classified as Amber List (Moderate Evidence).
gene: PYROXD1 was added gene: PYROXD1 was added to Congenital myopathy. Sources: Expert Review Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYROXD1 were set to 27745833; 31455395 Phenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258; myopathy Review for gene: PYROXD1 was set to AMBER