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| Mendeliome v1.5008 | TMEM161B | Zornitza Stark Marked gene: TMEM161B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5008 | TMEM161B | Zornitza Stark Gene: tmem161b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5008 | TMEM161B | Zornitza Stark Classified gene: TMEM161B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5008 | TMEM161B | Zornitza Stark Gene: tmem161b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5007 | TMEM161B |
Zornitza Stark gene: TMEM161B was added gene: TMEM161B was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TMEM161B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM161B were set to 37486637; 36669109; 36669111 Phenotypes for gene: TMEM161B were set to Neurodevelopmental disorder, MONDO:0700092, TMEM161B-related Review for gene: TMEM161B was set to GREEN Added comment: Fifteen individuals from eight families reported with biallelic TMEM161B variants causing diffuse polymicrogyria, seizures, microcephaly, hypotonia and intellectual disability. Functional studies include splice‑site RNA validation, GLI1 luciferase assays, mouse knockout, ferret knock‑down and patient‑derived organoid and fibroblast defects rescued by wild‑type TMEM161B or CDC42 in mouse knock‑in models. Sources: Literature |
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