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| Gastrointestinal neuromuscular disorders v1.23 | ACTA2 | Arina Puzriakova Phenotypes for gene: ACTA2 were changed from Multisystemic smooth muscle dysfunction syndrome, MIM# 613834 to Multisystemic smooth muscle dysfunction syndrome, OMIM:613834 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disorders v1.15 | ACTA2 |
Zornitza Stark gene: ACTA2 was added gene: ACTA2 was added to Gastrointestinal neuromuscular disorders. Sources: Expert Review Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTA2 were set to 20734336; 29300374 Phenotypes for gene: ACTA2 were set to Multisystemic smooth muscle dysfunction syndrome, MIM# 613834 Review for gene: ACTA2 was set to GREEN gene: ACTA2 was marked as current diagnostic Added comment: Multisystemic smooth muscle dysfunction syndrome (MSMDS) presents with a recognizable pattern of complications, including congenital mydriasis, patent ductus arteriosus (PDA), pulmonary artery hypertension, aortic and other arterial aneurysms, moyamoya-like cerebrovascular disease, intestinal hypoperistalsis and malrotation, and hypotonic bladder. More than 40 unrelated individuals reported, missense at p.Arg179 position. Sources: Expert Review |
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| Gastrointestinal neuromuscular disorders v1.13 | LIG3 |
Ivone Leong gene: LIG3 was added gene: LIG3 was added to Gastrointestinal neuromuscular disorders. Sources: Literature,Expert Review Amber Q2_21_rating tags were added to gene: LIG3. Mode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIG3 were set to 33855352 Phenotypes for gene: LIG3 were set to gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy; mitochondrial DNA depletion |
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| Gastrointestinal neuromuscular disorders v1.12 | MYH11 |
Zornitza Stark gene: MYH11 was added gene: MYH11 was added to Gastrointestinal neuromuscular disorders. Sources: Expert list 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 Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome Review for gene: MYH11 was set to GREEN gene: MYH11 was marked as current diagnostic Added comment: Heterozygous dominant negative MYH11 pathogenic variants have been associated with thoracic aortic aneurysm and dissection while biallelic null alleles have been associated with megacystis microcolon intestinal hypoperistalsis syndrome. Recent report of two families with heterozygous protein‐elongating MYH11 variants affecting the SM2 isoforms of MYH11 as a cause for severe gastrointestinal dysmotility. The authors hypothesise that the mechanistic pathogenesis of this disease, dominant hypercontractile loss‐of‐function, is distinct from those implicated in other diseases involving MYH11 dysfunction. Sources: Expert list |
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| Gastrointestinal neuromuscular disorders | SMO | Ellen McDonagh edited their review of SMO | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disorders | SMO | Ellen McDonagh classified SMO as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disorders | SMO | Ellen McDonagh commented on SMO | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disorders | SMO | Neil shah reviewed SMO | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||