This Panel is marked as Deleted
GMS Respiratory specialist test group Laterality disorders and isomerism
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
1 review
Louise Daugherty (Genomics England Curator)
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: ACTG2; Suggested intial gene rating: Amber; Evidence for inclusion: none given; Evidence for exclusion: Atrial septal defect; not clear cause of isomerism; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 26 Nov 2018, 2:25 p.m.
Details
- Sources
-
- Expert Review Amber
- NHS GMS
- OMIM
- 102545
- Clinvar variants
- Variants in ACTG2
- Penetrance
- None
- 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
26 Nov 2018, Gel status: 2
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to ACTG2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
26 Nov 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: ACTG2 was added gene: ACTG2 was added to GMS Respiratory specialist test group Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: ACTG2 was set to