| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.4136 | UNC13C | Zornitza Stark Marked gene: UNC13C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4136 | UNC13C | Zornitza Stark Gene: unc13c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4136 | UNC13C | Zornitza Stark Classified gene: UNC13C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4136 | UNC13C | Zornitza Stark Gene: unc13c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4111 | UNC13C |
Sangavi Sivagnanasundram gene: UNC13C was added gene: UNC13C was added to Mendeliome. Sources: Literature Mode of inheritance for gene: UNC13C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC13C were set to 41399760 Phenotypes for gene: UNC13C were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: UNC13C was set to AMBER Added comment: PMID 41399760 reports 11 individuals from 9 unrelated families with biallelic nonsense and missense UNC13C variants presenting with a severe neurodevelopmental disorder (global developmental delay, microcephaly, autism spectrum disorder, brain malformations, hypotonia). Inheritance is autosomal recessive. Drosophila knock‑in models examined ethanol sensitivity but did not reproduce neurodevelopmental phenotypes, offering limited functional support for pathogenicity. Multiple different biallelic variants were reported - all were either absent or rare enough for AR gene in gnomAD v4.1 except for c.283C>T(p.Arg95Ter) which has a FAF of 0.4409% Sources: Literature |
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