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| Congenital myopathy v3.86 | PYROXD1 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.230 | PYROXD1 | Louise Daugherty Classified gene: PYROXD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.230 | PYROXD1 | Louise Daugherty Added comment: 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 R81 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.230 | PYROXD1 | Louise Daugherty Gene: pyroxd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.229 | PYROXD1 | Louise Daugherty 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.223 | PYROXD1 | Anna Sarkozy reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27745833; Phenotypes: early-onset myopathy with internalized nuclei and myofibrillar disorganization; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.196 | PYROXD1 | Louise Daugherty Classified gene: PYROXD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.196 | PYROXD1 | Louise Daugherty Gene: pyroxd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.193 | PYROXD1 |
Louise Daugherty 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 Added comment: New gene suggested by Anna Sarkozy for inclusion on the congenital myopathy panel Sources: Expert Review |
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| Congenital myopathy v1.193 | PYROXD1 |
Louise Daugherty 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 Added comment: New gene suggested by Anna Sarkozy for inclusion on the congenital myopathy panel Sources: Expert Review |
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