Eye Anterior Segment Abnormalities
Gene: JAG1EnsemblGeneIds (GRCh38): ENSG00000101384
EnsemblGeneIds (GRCh37): ENSG00000101384
OMIM: 601920, Gene2Phenotype
JAG1 is in 16 panels
1 review
Chris Richmond (Genetic Health Queensland)
From PMID 21730847: "Ocular anomalies are seen in 78-95% of patients, primarily posterior embryotoxon, although other ASDs such as iris hypoplasia and small corneal diameters are also common and irido-corneal synechiae and corectopia have been occasionally reported (PMIDs 10051485, 18097983, 9951486)"
Sources: LiteratureCreated: 9 Jan 2020, 3:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome 118450
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Alagille syndrome 118450
- OMIM
- 601920
- Clinvar variants
- Variants in JAG1
- Penetrance
- Complete
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: jag1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: jag1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Chris Richmond (Genetic Health Queensland)gene: JAG1 was added gene: JAG1 was added to Eye Anterior Segment Abnormalities_VCGS. Sources: Literature Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: JAG1 were set to 21730847; 10051485; 18097983; 9951486 Phenotypes for gene: JAG1 were set to Alagille syndrome 118450 Penetrance for gene: JAG1 were set to Complete Review for gene: JAG1 was set to GREEN