Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: RNU7-1
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
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
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: LiteratureCreated: 27 Nov 2020, 10:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Type I interferonopathy, Aicardi-Goutières syndrome
Publications
Tag gene-checked tag was added to gene: RNU7-1.
Tag for-review was removed from gene: RNU7-1.
Source Expert Review Green was added to RNU7-1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: RNU7-1 were set to 33230297
Phenotypes for gene: RNU7-1 were changed from Type I interferonopathy; Aicardi-Goutières syndrome to Aicardi-Goutières syndrome-like; Type 1 interferonopathy
Tag watchlist was removed from gene: RNU7-1. Tag for-review tag was added to gene: RNU7-1.
Tag watchlist tag was added to gene: RNU7-1.
Phenotypes for gene: RNU7-1 were changed from Type I interferonopathy, Aicardi-Goutières syndrome to Type I interferonopathy; Aicardi-Goutières syndrome
Gene: rnu7-1 has been classified as Amber List (Moderate Evidence).
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