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Primary immunodeficiency

Gene: RNU7-1

Amber List (moderate evidence)

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

Arina Puzriakova (Genomics England Curator)

I don't know

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Aicardi-Goutières syndrome-like
  • Type 1 interferonopathy
Tags
for-review
Clinvar variants
Variants in RNU7-1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

2 Nov 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: RNU7-1 were set to 33230297

25 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RNU7-1 were changed from Type I interferonopathy; Aicardi-Goutières syndrome to Aicardi-Goutières syndrome-like; Type 1 interferonopathy

25 Jan 2021, Gel status: 2

Removed Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist was removed from gene: RNU7-1. Tag for-review tag was added to gene: RNU7-1.

1 Dec 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

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

1 Dec 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RNU7-1 were changed from Type I interferonopathy, Aicardi-Goutières syndrome to Type I interferonopathy; Aicardi-Goutières syndrome

1 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: rnu7-1 has been classified as Amber List (Moderate Evidence).

27 Nov 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Boaz Palterer (University of Florence)

gene: RNU7-1 was added gene: RNU7-1 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU7-1 were set to 33230297 Phenotypes for gene: RNU7-1 were set to Type I interferonopathy, Aicardi-Goutières syndrome Penetrance for gene: RNU7-1 were set to unknown Review for gene: RNU7-1 was set to AMBER