Previous symbols: AGS, JAGL1. Aliases: AHD, AWS, HJ1, CD339.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Charcot-Marie-Tooth Disease Type 2 | causative |
mechanism: Reduced JAG1 Cell Surface Expression
subtype: CMT2HH
scoped to subtype: CMT2HH
|
| Deafness, Congenital Heart Defects, and Posterior Embryotoxon | causative germline loss of function |
mechanism: JAG1 First EGF-Like Repeat Cysteine Substitution
|
| Tetralogy of Fallot | causative germline | |
| Alagille syndrome |
untyped
Causal haploinsufficiency or pathogenic heterozygous variant
|
mechanism: JAG1 haploinsufficiency
subtype: 20p12 deletion ALGS; JAG1 point-variant ALGS
treatment: JAG1-upregulating antisense oligonucleotide (preclinical)
|
| Congenital Renal Artery Stenosis |
untyped
Monogenic vasculopathy / Alagille-associated midaortic syndrome gene
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| Alagille syndrome due to a JAG1 point mutation MONDO:0016862 | AD | Definitive 2025-04-14 |
Alagille syndrome
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.