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| Mendeliome v1.4286 | TTBK1 | Zornitza Stark Marked gene: TTBK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4286 | TTBK1 | Zornitza Stark Gene: ttbk1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4286 | TTBK1 |
Zornitza Stark gene: TTBK1 was added gene: TTBK1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TTBK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTBK1 were set to 41545183 Phenotypes for gene: TTBK1 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: TTBK1 was set to RED Added comment: PMID 41545183 reports 2 individuals from a single family with biallelic loss-of-function frameshift variant (p.Thr634ArgfsTer39) presenting with a severe syndromic neurodevelopmental disorder characterized by global developmental delay, microcephaly, progressive spasticity, non‑ambulatory status, and seizures in the older sibling. No functional studies were performed. Sources: Literature |
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