Ehlers Danlos syndrome with a likely monogenic cause
Gene: ACVR1
ACVR1 (activin A receptor type 1)
EnsemblGeneIds (GRCh38): ENSG00000115170
EnsemblGeneIds (GRCh37): ENSG00000115170
OMIM: 102576, Gene2Phenotype
ACVR1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000115170
EnsemblGeneIds (GRCh37): ENSG00000115170
OMIM: 102576, Gene2Phenotype
ACVR1 is in 9 panels
2 reviews
Angela Brady (Nhs)
Neeti Ghali (NWTRGS, Northwick Park Hospital)
In differential diagnosis for OI but not significant overlap with EDS. Review from EDS National Diagnostic Service North West London Hospital NHS Trust: Dr Angela Brady FRCP PhD, Consultant Clinical Geneticist; Dr Neeti Ghali MBChB MD, Consultant Clinical Geneticist; Dr Fleur S van Dijk MD PhD, Consultant.Created: 7 Jul 2017, 6:29 p.m.
Details
- Sources
-
- Emory Genetics Laboratory
- Expert list
- Phenotypes
-
- Connective Tissue Disorders
- OMIM
- 102576
- Clinvar variants
- Variants in ACVR1
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Thoracic aortic aneurysm or dissection
- Iron metabolism disorders - NOT common HFE mutations
- Intellectual disability
- DDG2P
- Skeletal dysplasia
- Autosomal recessive primary hypertrophic osteoarthropathy
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
History Filter Activity
25 Jul 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
24 Jan 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ACVR1 was created by ellenmcdonagh
24 Jan 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ACVR1 was added to Ehlers-Danlos syndromespanel. Sources: Expert list,Emory Genetics Laboratory