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| Autoinflammatory Disorders v1.31 | RNU7-1 | Zornitza Stark Marked gene: RNU7-1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v1.31 | RNU7-1 | Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v1.31 | RNU7-1 | Zornitza Stark Classified gene: RNU7-1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v1.31 | RNU7-1 | Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v1.30 | RNU7-1 |
Sangavi Sivagnanasundram gene: RNU7-1 was added gene: RNU7-1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Other Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU7-1 were set to 33230297; 35748970 Phenotypes for gene: RNU7-1 were set to Aicardi-Goutieres syndrome 9 (MIM#619487) Review for gene: RNU7-1 was set to GREEN Added comment: Reviewed from PMID: 35748970 Aicardi-Goutieres syndrome 9 (AGS9) is a type I interferonopathy typically caused by compound heterozygous mutations in RNU7-1 PubMed: 33230297 16 individuals from 11 families with AGS - all affected individuals had typical clinical features of AGS (elevated interferon score). RT-PCR functional assay on patient and control fibroblasts were conducted that showed a loss of function mechanism of disease. Sources: Other |
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