| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gastrointestinal neuromuscular disease v0.36 | MYH11 | Zornitza Stark Phenotypes for gene: MYH11 were changed from Visceral myopathy 2, MIM# 619350; Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome to Visceral myopathy 2, MIM# 619350; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, MIM# 619351; Dominant smooth muscle dysmotility syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.35 | MYH11 | Zornitza Stark Phenotypes for gene: MYH11 were changed from Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome to Visceral myopathy 2, MIM# 619350; Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.34 | MYH11 | Zornitza Stark edited their review of gene: MYH11: Changed phenotypes: Visceral myopathy 2, MIM# 619350, Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive, Dominant smooth muscle dysmotility syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.5 | MYH11 | Zornitza Stark Marked gene: MYH11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.5 | MYH11 | Zornitza Stark Gene: myh11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.5 | MYH11 | Zornitza Stark Phenotypes for gene: MYH11 were changed from Patent ductus arteriosus in 1 individual; Aortic aneurysm, familial thoracic 4, 132900 to Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.4 | MYH11 | Zornitza Stark Publications for gene: MYH11 were set to 31044419; 31427716; 25407000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.3 | MYH11 | Zornitza Stark Mode of inheritance for gene: MYH11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.2 | MYH11 | Zornitza Stark reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 31944481; Phenotypes: Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive, Dominant smooth muscle dysmotility syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.0 | MYH11 |
Bryony Thompson gene: MYH11 was added gene: MYH11 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: MYH11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYH11 were set to 31044419; 31427716; 25407000 Phenotypes for gene: MYH11 were set to Patent ductus arteriosus in 1 individual; Aortic aneurysm, familial thoracic 4, 132900 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||