Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for ACTG2 were set to PMID: 25998219
This gene has been classified as Red List (Low Evidence).
This gene has been removed from the panel.
ACTG2 was added to CAKUTpanel. Sources: Expert Review