Autoinflammatory Disorders
Gene: RNU7-1EnsemblGeneIds (GRCh38): ENSG00000238923
EnsemblGeneIds (GRCh37): ENSG00000238923
RNU7-1 is in 8 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Aicardi-Goutieres syndrome 9 (MIM#619487)
- Clinvar variants
- Variants in RNU7-1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rnu7-1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rnu7-1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)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