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| Congenital myopathy v3.14 | MYOD1 | Eleanor Williams Tag Q3_21_rating was removed from gene: MYOD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v3.14 | MYOD1 | Eleanor Williams reviewed gene: MYOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v3.13 | MYOD1 |
Eleanor Williams Source Expert Review Green was added to MYOD1. Source NHS GMS was added to MYOD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital myopathy v2.56 | MYOD1 | Ivone Leong commented on gene: MYOD1: Affected individuals present with hypotonia and respiratory insufficiency. More severe cases develop features in utero and lead to contractures. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.46 | MYOD1 | Ivone Leong Tag Q3_21_rating tag was added to gene: MYOD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.46 | MYOD1 | Ivone Leong Classified gene: MYOD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.46 | MYOD1 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.46 | MYOD1 | Ivone Leong Gene: myod1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.44 | MYOD1 | Ivone Leong Phenotypes for gene: MYOD1 were changed from Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, MIM# 618975 to Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.5 | MYOD1 |
Zornitza Stark gene: MYOD1 was added gene: MYOD1 was added to Congenital myopathy. Sources: Literature Mode of inheritance for gene: MYOD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYOD1 were set to 26733463; 30403323; 31260566 Phenotypes for gene: MYOD1 were set to Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, MIM# 618975 Review for gene: MYOD1 was set to GREEN gene: MYOD1 was marked as current diagnostic Added comment: Three unrelated families reported. Sources: Literature |
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