Unexplained young onset end-stage renal disease
Gene: ACTG2
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment when marking as ready: Associated with phenotype in OMIM not in G2P. Numerous variants reportedCreated: 4 Aug 2016, 9:58 a.m.
Comment on list classification: Discussed internally; multiple different variants in unrelated cases reported for visceral myopathy which in OMIM includes the phenotypes Hydronephrosis, Vesicoureteral reflux and Urinary retention Megacystis.Created: 25 Apr 2016, 2:09 p.m.
Comment on list classification: The gene is associated with Visceral myopathy in OMIM, which includes Urinary retention Megacystis, Hydronephrosis and Vesicoureteral reflux.Created: 22 Apr 2016, 11:10 a.m.
gene: ACTG2 was added gene: ACTG2 was added to Unexplained paediatric onset end-stage renal disease. 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