| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.2154 | MRVI1 | Bryony Thompson Marked gene: MRVI1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2154 | MRVI1 | Bryony Thompson Gene: mrvi1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2154 | MRVI1 | Bryony Thompson Phenotypes for gene: MRVI1 were changed from moyamoya syndrome to Moyamoya disease MONDO:0016820 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2153 | MRVI1 | Bryony Thompson edited their review of gene: MRVI1: Changed phenotypes: Moyamoya disease MONDO:0016820 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2153 | MRVI1 |
Bryony Thompson gene: MRVI1 was added gene: MRVI1 was added to Mendeliome. Sources: NHS GMS new gene name tags were added to gene: MRVI1. Mode of inheritance for gene: MRVI1 was set to Unknown Publications for gene: MRVI1 were set to 30001348 Phenotypes for gene: MRVI1 were set to moyamoya syndrome Review for gene: MRVI1 was set to RED Added comment: A single report of a variant as a possible modifier of NF1-related Moyamoya disease. The SNP rs35857561 segregates co-occurring with NF1 in 2 families and Moyamoya disease. rs35857561 is a common SNP and IRAG1 (new gene name) hasn't been reported in association with Mendelian disease. Sources: NHS GMS |
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