This Panel is marked as Internal
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
Gene: JAG1
JAG1 (jagged 1)
EnsemblGeneIds (GRCh38): ENSG00000101384
EnsemblGeneIds (GRCh37): ENSG00000101384
OMIM: 601920, Gene2Phenotype
JAG1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000101384
EnsemblGeneIds (GRCh37): ENSG00000101384
OMIM: 601920, Gene2Phenotype
JAG1 is in 15 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.Created: 23 Jun 2017, 1:06 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- ClinGen
- Expert Review Red
- Phenotypes
-
- Familial thoracic aortic aneurysm and aortic dissection
- OMIM
- 601920
- Clinvar variants
- Variants in JAG1
- Penetrance
- Complete
- Panels with this gene
-
- Cholestasis
- CAKUT
- Monogenic hearing loss
- Tubulointerstitial kidney disease
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Familial non syndromic congenital heart disease
- Cerebral vascular malformations
- Retinal disorders
- Intellectual disability
- Ductal plate malformation
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- Hereditary neuropathy
History Filter Activity
22 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)JAG1 was created by ellenmcdonagh
22 Jun 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)JAG1 was added to ClinGen_Familial thoracic aortic aneurysm and aortic dissectionpanel. Sources: ClinGen,Expert Review Red