| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v2.75 | NIBAN3 | Bryony Thompson Marked gene: NIBAN3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.75 | NIBAN3 | Bryony Thompson Gene: niban3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.75 | NIBAN3 | Bryony Thompson Classified gene: NIBAN3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.75 | NIBAN3 | Bryony Thompson Gene: niban3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.74 | NIBAN3 |
Bryony Thompson gene: NIBAN3 was added gene: NIBAN3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NIBAN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NIBAN3 were set to 42185265 Phenotypes for gene: NIBAN3 were set to achalasia MONDO:0008698 Review for gene: NIBAN3 was set to AMBER Added comment: PMID 42185265 reports 2 apparently unrelated individuals (1 identified through trio analysis and 1 from a sporadic cohort) with a homozygous loss-of-function frameshift variant p.Ala454fs in NIBAN3 presenting with achalasia (elevated lower‑esophageal sphincter pressure, impaired esophageal emptying). A CRISPR/Cas9‑engineered Fam129c mouse model recapitulates key achalasia features, and B‑cell depletion or IVIG partially rescues the phenotype, supporting a neuro‑immune mechanism. Sources: Literature |
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