ClinGen Dosage Sensitivity Curation Page

JAG1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000020.10) (NC_000020.11)
Evidence for haploinsufficiency phenotype
PubMed ID Description
9585603 Krantz et al. (1998) tested 54 probands with Alagille syndrome for mutations in JAG1. They found mutations/deletions in 75% of the patients, including 3 whole-gene deletions, 19 small deletions and insertions, and 9 nonsense mutations. Three of the nine nonsense mutations were de novo.
12497640 Ropke et al. (2003) tested a series of probands with Alagille syndrome for mutations in JAG1. They found 36 new mutations in JAG1, including 23 truncating mutations. Five of these were de novo nonsense mutations.
16575836 Warthen et al. (2006) tested 247 probands with Alagille syndrome and found JAG1 mutations in 94% of patients, including 83 novel mutations.

Haploinsufficiency phenotype comments:

Mutations in JAG1 are associated with Alagille syndrome which is a multisystem disorder characterized by liver disease and is known to have variable expressivity.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity