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| Mendeliome v1.3915 | PRMT1 | Zornitza Stark Marked gene: PRMT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3915 | PRMT1 | Zornitza Stark Gene: prmt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3915 | PRMT1 | Zornitza Stark Phenotypes for gene: PRMT1 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder, MONDO:0700092, PRMT1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3914 | PRMT1 | Zornitza Stark Classified gene: PRMT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3914 | PRMT1 | Zornitza Stark Gene: prmt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3913 | PRMT1 |
Zornitza Stark changed review comment from: PMID 39937650 reports four individuals from four unrelated families with heterozygous de novo missense PRMT1 variants presenting with neurodevelopmental disorder and dystonia. Functional studies demonstrated reduced protein stability and enzymatic activity, supporting a loss‑of‑function mechanism. Sources: Literature; to: PMID 39937650 reports four individuals from four unrelated families with heterozygous de novo missense PRMT1 variants presenting with neurodevelopmental disorder and dystonia (in two). Functional studies demonstrated reduced protein stability and enzymatic activity, supporting a loss‑of‑function mechanism. Two of the individuals had the same variant, p.Glu291Lys. Sources: Literature |
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| Mendeliome v1.3913 | PRMT1 |
Zornitza Stark gene: PRMT1 was added gene: PRMT1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PRMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRMT1 were set to 39937650 Phenotypes for gene: PRMT1 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: PRMT1 was set to GREEN Added comment: PMID 39937650 reports four individuals from four unrelated families with heterozygous de novo missense PRMT1 variants presenting with neurodevelopmental disorder and dystonia. Functional studies demonstrated reduced protein stability and enzymatic activity, supporting a loss‑of‑function mechanism. Sources: Literature |
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