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| Mendeliome v1.4584 | TRANK1 | Chirag Patel Marked gene: TRANK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4584 | TRANK1 | Chirag Patel Gene: trank1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4584 | TRANK1 |
Chirag Patel gene: TRANK1 was added gene: TRANK1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TRANK1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TRANK1 were set to 38649688; 30504930 Phenotypes for gene: TRANK1 were set to Autism, MONDO:0005260 Review for gene: TRANK1 was set to RED Added comment: PMID 30504930 describes 2 unrelated individuals with de novo TRANK1 missense variants (p.Val901Ile and p.Thr2109Lys) and autism spectrum disorder (ASD). No functional studies. PMID 38649688 identifies 2 brothers from a consanguineous family with a homozygous TRANK1 missense variant (p.Glu273Gly) presenting with ASD, non‑verbal status and associated behavioural traits. Parents heterozygous carriers with no phenotype. No functional studies. Sources: Literature |
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