Autoinflammatory Disorders

Gene: RNU7-1

Green List (high evidence)

RNU7-1 (RNA, U7 small nuclear 1)
EnsemblGeneIds (GRCh38): ENSG00000238923
EnsemblGeneIds (GRCh37): ENSG00000238923
RNU7-1 is in 8 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

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
Created: 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)
Tags
non-coding gene
Clinvar variants
Variants in RNU7-1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2025, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag non-coding gene tag was added to gene: RNU7-1.

15 Dec 2023, Gel status: 3

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).

15 Dec 2023, Gel status: 3

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).

12 Dec 2023, Gel status: 0

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