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| Unexplained young onset end-stage renal disease - additional genes v0.73 | ACTG2 | Achchuthan Shanmugasundram Publications for gene: ACTG2 were set to PMID: 25998219 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.70 | ACTG2 | Achchuthan Shanmugasundram Phenotypes for gene: ACTG2 were changed from Berdon syndrome; visceral myopathy; Megacystis-microcolon intestinal hypoperistalsis syndrome; Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310 to Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431; Visceral myopathy 1, OMIM:155310; Berdon syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | ACTG2 | Achchuthan Shanmugasundram Added phenotypes Berdon syndrome; visceral myopathy; Megacystis-microcolon intestinal hypoperistalsis syndrome; Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310 for gene: ACTG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | ACTG2 | Achchuthan Shanmugasundram reviewed gene: ACTG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.40 | ACTG2 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.40 | ACTG2 |
Achchuthan Shanmugasundram gene: ACTG2 was added gene: ACTG2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTG2 were set to PMID: 25998219 Phenotypes for gene: ACTG2 were set to Berdon syndrome; visceral myopathy; Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310; Megacystis-microcolon intestinal hypoperistalsis syndrome |
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