Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: RNU7-1

RNU7-1 (RNA, U7 small nuclear 1)
EnsemblGeneIds (GRCh38): ENSG00000238923
EnsemblGeneIds (GRCh37): ENSG00000238923
RNU7-1 is in 5 panels

3 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Included in latest IUIS panel (PMID: 33598806)
Created: 27 Oct 2021, 11:39 a.m. | Last Modified: 27 Oct 2021, 11:39 a.m.

Panel Version: 2.480

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 27 Oct 2021, 11:39 a.m.
Last Modified: 27 Oct 2021, 11:39 a.m.
Panel version: 2.480

Arina Puzriakova (Genomics England Curator)

I don't know

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.

Panel Version: 2.529

Comment on list classification: New gene added by Boaz Palterer. Rating Amber with recommendation of review by the GMS team with regards to phenotypic fit for the PID panel - Aicardi-Goutieres syndrome genes are Green on this panel. Sufficient unrelated cases, supported by functional analysis (PMID: 33230297), to promote to Green if appropriate.
Created: 1 Dec 2020, 2:16 p.m. | Last Modified: 25 Jan 2021, 3:39 p.m.

Panel Version: 2.391

Not associated with any phenotype in OMIM or Gene2Phenotype.

PMID: 33230297 (2020) - 16 individuals from 11 families with biallelic variants in the RNU7-1 gene. Clinical features were typical of Aicardi–Goutières syndrome, including upregulated interferon signalling in patient blood and fibroblasts. 4/12 variants were observed in 2 or more families - several from different ethnic backgrounds. 8 variants are recorded in gnomAD but at a frequency of ≤0.005; no biallelic variants were identified in control populations. Some functional data showing a disturbance of histone RNA processing in patient-derived compared to control fibroblasts.
Created: 1 Dec 2020, 2:09 p.m. | Last Modified: 25 Jan 2021, 4:23 p.m.

Panel Version: 2.392

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Type I interferonopathy; Aicardi–Goutières syndrome

Publications

33230297

Created: 1 Dec 2020, 2:09 p.m.
Last Modified: 25 Jan 2021, 4:23 p.m.
Panel version: 2.529

Boaz Palterer (University of Florence)

I don't know

16 patients belonging to 11 independent pedigrees harbored biallelic variants, with a frequency of ≤0.005 alleles in the Genome Aggregation Database (gnomAD), in the RNU7-1 gene encoding small nuclear RNA (snRNA) U7
Sources: Literature
Created: 27 Nov 2020, 10:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Type I interferonopathy, Aicardi-Goutières syndrome

Publications

33230297

Created: 27 Nov 2020, 10:34 a.m.

Panel version: 2.379

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Aicardi-Goutières syndrome-like
Type 1 interferonopathy

Tags

locus-type-rna-small-nuclear gene-checked

Clinvar variants

Variants in RNU7-1

Penetrance

unknown

Publications

Panels with this gene

History Filter Activity

29 Jul 2024, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag locus-type-rna-small-nuclear tag was added to gene: RNU7-1.

8 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: RNU7-1.

4 Mar 2022, Gel status: 3