Aortopathy_Connective Tissue Disorders
Gene: JAG1EnsemblGeneIds (GRCh38): ENSG00000101384
EnsemblGeneIds (GRCh37): ENSG00000101384
OMIM: 601920, Gene2Phenotype
JAG1 is in 16 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Thoracic aortic aneurysm appears to be a rare feature of Alagille syndrome, but has been reported as a presenting feature in at least 2 families
PMID: 35819173 - two families segregating JAG1 variants that present with isolated aneurysmal disease lacking other Alagille syndrome (AGS) clinical characteristics (such as the hepatic abnormalities, posterior embryotoxon, and cardiac structural changes). Histological evaluation of aortic tissue from one of the TAA cases revealed elastin degradation and abnormal collagen deposition.
PMID: 30071989 - JAG1 assessed as no (clinical) evidence for HTAAD by the ClinGen Heritable Thoracic Aortic Aneurysm and Dissection GCEP in 2018. Currently under review
PMID: 14993126 - three AGS patients with aortic aneurysms and 2 with aortic coarctations identified in a retrospective chart review of 268 AGS individuals autopsy finding in three patients who died of sudden death
PMID: 18570795 - 17 yo asymptomatic AGS case with dilatation of the ascending aorta from the root identified
Sources: LiteratureCreated: 9 Sep 2022, 12:26 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
thoracic aortic aneurysm MONDO:0005396
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- thoracic aortic aneurysm MONDO:0005396
- OMIM
- 601920
- Clinvar variants
- Variants in JAG1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cholestasis
- Liver Failure_Paediatric
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Craniosynostosis
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- Eye Anterior Segment Abnormalities
- Alagille syndrome
- Aortopathy_Connective Tissue Disorders
- Vitreoretinopathy
- Syndromic Retinopathy
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: jag1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: jag1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: JAG1 was added gene: JAG1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: JAG1 were set to 35819173; 30071989; 14993126; 18570795 Phenotypes for gene: JAG1 were set to thoracic aortic aneurysm MONDO:0005396 Review for gene: JAG1 was set to AMBER