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| Mendeliome v1.4525 | ASCL5 | Zornitza Stark Marked gene: ASCL5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4525 | ASCL5 | Zornitza Stark Gene: ascl5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4525 | ASCL5 | Zornitza Stark Classified gene: ASCL5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4525 | ASCL5 | Zornitza Stark Gene: ascl5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4524 | ASCL5 |
Zornitza Stark gene: ASCL5 was added gene: ASCL5 was added to Mendeliome. Sources: Literature founder tags were added to gene: ASCL5. Mode of inheritance for gene: ASCL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ASCL5 were set to 41673016 Phenotypes for gene: ASCL5 were set to Tooth disorder, MONDO:0006999, ASCL5-related Review for gene: ASCL5 was set to AMBER Added comment: [PMID 41673016] reports 17 individuals from 6 unrelated families with heterozygous missense ASCL5 c.274G>A (p.Glu92Lys) variants presenting with autosomal‑dominant lobodontia, characterized by supernumerary cusps, single pyramidal roots, and taurodontism. The variant fully co‑segregates with disease, is absent from population databases, and functional studies (CRISPR knock‑in mouse, luciferase reporter, RNA‑seq) demonstrate loss‑of‑function of ASCL5 transcriptional activation. Amber rating due to this being a likely founder variant and not necessarily perceived as disease. Sources: Literature |
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