| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v2.243 | MAML1 | Zornitza Stark Marked gene: MAML1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.243 | MAML1 | Zornitza Stark Gene: maml1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.243 | MAML1 | Zornitza Stark Classified gene: MAML1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.243 | MAML1 | Zornitza Stark Gene: maml1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.242 | MAML1 |
Zornitza Stark gene: MAML1 was added gene: MAML1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MAML1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAML1 were set to 42246060; 27997510; 27760138 Phenotypes for gene: MAML1 were set to Congenital heart disease, MONDO:0005453, MAML1-related Review for gene: MAML1 was set to GREEN Added comment: MAML1 encodes the Notch transcriptional co‑activator Mastermind‑like protein 1. PMID 42246060 identifies eight individuals with congenital heart disease patients (with heterozygous missense variants Q401K, T433K, N580K and M698R that impair Notch signalling via disrupted phase separation, supported by luciferase reporter assays, a mouse knock‑in and human heart organoid models. PMID 27760138 describes five individuals from two families with left‑ventricular outflow tract obstruction due to rare heterozygous missense MAML1 variants that co‑segregate with disease, although no functional assays were performed. Some of the reported variants are present in the population at high frequencies and are not segregated, hence the Amber rating. Sources: Literature |
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