Autoinflammatory Disorders
Gene: RNU7-1
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: OtherCreated: 12 Dec 2023, 9:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 9 (MIM#619487)
Publications
Tag non-coding gene tag was added to gene: RNU7-1.
Gene: rnu7-1 has been classified as Green List (High Evidence).
Gene: rnu7-1 has been classified as Green List (High Evidence).
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