Alagille Syndrome
An Autosomal dominant mode(s) within the Liver disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Liver disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | JAG1/182 | jagged canonical Notch ligand 1 | 20p12.2 | Chr20, NC_000020.11 (10637684..10673999, complement) |
36316 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | NOTCH2/4853 | notch receptor 2 | 1p12 | Chr1, NC_000001.11 (119911553..120069662, complement) |
158110 nt | 34 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |