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Mendeliome

Gene: JAG1

Green List (high evidence)

JAG1 (jagged 1)
EnsemblGeneIds (GRCh38): ENSG00000101384
EnsemblGeneIds (GRCh37): ENSG00000101384
OMIM: 601920, Gene2Phenotype
JAG1 is in 16 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

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
Created: 9 Sep 2022, 12:19 a.m. | Last Modified: 9 Sep 2022, 12:19 a.m.
Panel Version: 1.323

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
thoracic aortic aneurysm MONDO:0005396

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Association with Alagille is very well established.

Two unrelated families reported with CMT type 2. Affected individuals in both families exhibited severe vocal fold paresis, a rare feature of peripheral nerve disease that can be life-threatening. Studies of mutant protein posttranslational modification and localization indicated that the mutations (p.Ser577Arg, p.Ser650Pro) impair protein glycosylation and reduce JAG1 cell surface expression. Mice harboring heterozygous CMT2-associated mutations exhibited mild peripheral neuropathy, and homozygous expression resulted in embryonic lethality by midgestation. Pre-existing rat model.
Sources: Literature
Created: 23 Apr 2020, 10:19 a.m. | Last Modified: 7 Mar 2022, 1:56 a.m.
Panel Version: 0.11163

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alagille syndrome 1, MIM# 118450; Charcot-Marie-Tooth disease, axonal, type 2HH, MIM# 619574

Publications

History Filter Activity

7 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jag1 has been classified as Green List (High Evidence).

7 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: JAG1 were changed from to Alagille syndrome 1, MIM# 118450; Charcot-Marie-Tooth disease, axonal, type 2HH, MIM# 619574

7 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: JAG1 were set to

7 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: JAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: JAG1 was added gene: JAG1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: JAG1 was set to Unknown