Activity
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| Fetal anomalies v4.192 | MYOD1 |
Achchuthan Shanmugasundram Tag watchlist was removed from gene: MYOD1. Tag Q3_24_promote_green was removed from gene: MYOD1. Tag Q3_24_NHS_review was removed from gene: MYOD1. |
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| Fetal anomalies v4.192 | MYOD1 | Achchuthan Shanmugasundram edited their review of gene: MYOD1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | MYOD1 |
Achchuthan Shanmugasundram Source NHS GMS was added to MYOD1. Source Expert Review Green was added to MYOD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.74 | MYOD1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MYOD1. Tag Q3_24_NHS_review tag was added to gene: MYOD1. |
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| Fetal anomalies v4.36 | MYOD1 | Achchuthan Shanmugasundram commented on gene: MYOD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MYOD1 | Natalie Bibb reviewed gene: MYOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30403323, 26733463, 31260566; Phenotypes: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.692 | MYOD1 |
Ivone Leong Tag Q3_21_rating was removed from gene: MYOD1. Tag watchlist tag was added to gene: MYOD1. |
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| Fetal anomalies v1.692 | MYOD1 | Ivone Leong changed review comment from: 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.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics) on Congenital myopathy panel. This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association on this panel (Fetal anomalies). Therefore, this gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.692 | MYOD1 | Ivone Leong Entity copied from Congenital myopathy v2.56 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.692 | MYOD1 |
Ivone Leong gene: MYOD1 was added gene: MYOD1 was added to Fetal anomalies. Sources: Expert Review Amber,Literature Q3_21_rating tags were added to gene: MYOD1. 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, OMIM:618975 |
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