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| Mendeliome v2.558 | TTC14 | Zornitza Stark Marked gene: TTC14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.558 | TTC14 | Zornitza Stark Gene: ttc14 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.558 | TTC14 |
Zornitza Stark gene: TTC14 was added gene: TTC14 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TTC14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC14 were set to 42572047 Phenotypes for gene: TTC14 were set to Neurodevelopmental disorder, MONDO:0700092, TTC14-related Review for gene: TTC14 was set to RED Added comment: PMID 42572047 reports a single individual with a homozygous missense TTC14 variant (c.89A>G, p.His30Arg) presenting with a lissencephaly spectrum disorder that includes microcephaly, epileptic spasms and global developmental delay. Patient‑derived fibroblasts show TTC14 protein mislocalisation, aggregation and increased cell death, supporting a loss‑of‑function mechanism. Sources: Literature |
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