Activity
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| Paediatric disorders - additional genes v6.12 | MYH11 | Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MYH11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.12 | MYH11 | Achchuthan Shanmugasundram reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.11 | MYH11 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MYH11. Source NHS GMS was added to MYH11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric disorders - additional genes v5.5 | MYH11 | Sarah Leigh Tag Q3_24_promote_green tag was added to gene: MYH11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.5 | MYH11 | Sarah Leigh edited their review of gene: MYH11: Added comment: Biallelic MYH11 variants have been associated with Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (OMIM:619351), and as limited Gen2Phen gene for the same condition. PMIDs 29575632 & 29575632 report five MYH11 variants in three unrelated cases of OMIM:619351. The unaffected parents of these cases were heterozygous for the MYH11 variant.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.5 | MYH11 | Sarah Leigh Publications for gene: MYH11 were set to 31944481; 29575632 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.4 | MYH11 | Sarah Leigh Mode of inheritance for gene: MYH11 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.3 | MYH11 | Sarah Leigh Added comment: Comment on phenotypes: Monoallelic Aortic MYH11 variants are associated with: aneurysm, familial thoracic 4, OMIM:132900, MONDO:0007568 and Visceral myopathy 2, OMIM:619350, MONDO:0859157 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.3 | MYH11 | Sarah Leigh Phenotypes for gene: MYH11 were changed from Aortic aneurysm, familial thoracic 4, OMIM:132900, MONDO:0007568; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708; Visceral myopathy 2, OMIM:619350, MONDO:0859157 to Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.2 | MYH11 | Sarah Leigh Entity copied from Gastrointestinal neuromuscular disorders v1.25 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.2 | MYH11 |
Sarah Leigh gene: MYH11 was added gene: MYH11 was added to Paediatric disorders - additional genes. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: MYH11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYH11 were set to 31944481; 29575632 Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4, OMIM:132900, MONDO:0007568; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708; Visceral myopathy 2, OMIM:619350, MONDO:0859157 |
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