Unexplained young onset end-stage renal disease - additional genes
Gene: ACTG2EnsemblGeneIds (GRCh38): ENSG00000163017
EnsemblGeneIds (GRCh37): ENSG00000163017
OMIM: 102545, Gene2Phenotype
ACTG2 is in 9 panels
5 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eleanor Williams (Genomics England Curator)
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Helen Stuart (University of Manchester)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM not in G2P. Numerous variants reportedCreated: 4 Aug 2016, 9:58 a.m.
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 5, OMIM:619431
- Visceral myopathy 1, OMIM:155310
- Berdon syndrome
- OMIM
- 102545
- Clinvar variants
- Variants in ACTG2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Laterality disorders and isomerism
- Unexplained young onset end-stage renal disease - additional genes
- Paediatric disorders - additional genes
- Unexplained kidney failure in young people
- Gastrointestinal neuromuscular disorders
- Fetal anomalies
- Paediatric pseudo-obstruction syndrome
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- CAKUT
History Filter Activity
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: ACTG2 were set to PMID: 25998219
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)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
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Added phenotypes Berdon syndrome; visceral myopathy; Megacystis-microcolon intestinal hypoperistalsis syndrome; Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310 for gene: ACTG2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)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