CAKUT
Gene: ACTG2
ACTG2 (actin, gamma 2, smooth muscle, enteric)
EnsemblGeneIds (GRCh38): ENSG00000163017
EnsemblGeneIds (GRCh37): ENSG00000163017
OMIM: 102545, Gene2Phenotype
ACTG2 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000163017
EnsemblGeneIds (GRCh37): ENSG00000163017
OMIM: 102545, Gene2Phenotype
ACTG2 is in 9 panels
2 reviews
Helen Stuart (University of Manchester)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Megacystis-microcolon intestinal hypoperistalsis syndrome
- visceral myopathy
- Berdon syndrome
- OMIM
- 102545
- Clinvar variants
- Variants in ACTG2
- Penetrance
- Complete
- Publications
-
- PMID: 25998219
- Panels with this gene
-
- Laterality disorders and isomerism
- CAKUT
- Paediatric disorders - additional genes
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Unexplained kidney failure in young people
- Unexplained young onset end-stage renal disease - additional genes
- Gastrointestinal neuromuscular disorders
- Fetal anomalies
- Paediatric pseudo-obstruction syndrome
History Filter Activity
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
22 Apr 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
22 Apr 2016, Gel status: 1
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ACTG2 were set to PMID: 25998219
22 Apr 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
22 Apr 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
16 Oct 2015, Gel status: 0
Added New Source
Helen Stuart (University of Manchester)ACTG2 was added to CAKUTpanel. Sources: Expert Review