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Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 | RNU7-1 | Eleanor Williams Tag gene-checked tag was added to gene: RNU7-1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 | RNU7-1 | Arina Puzriakova Tag for-review was removed from gene: RNU7-1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 | RNU7-1 | Arina Puzriakova commented on gene: RNU7-1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 | RNU7-1 |
Arina Puzriakova Source Expert Review Green was added to RNU7-1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Primary immunodeficiency or monogenic inflammatory bowel disease v2.483 | RNU7-1 | Arina Puzriakova Publications for gene: RNU7-1 were set to 33230297 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.480 | RNU7-1 | Sophie Hambleton reviewed gene: RNU7-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.392 | RNU7-1 |
Arina Puzriakova changed review comment from: 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. Some functional data showing a disturbance of histone RNA processing in patient-derived compared to control fibroblasts.; to: 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. |
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Primary immunodeficiency or monogenic inflammatory bowel disease v2.392 | RNU7-1 | Arina Puzriakova Phenotypes for gene: RNU7-1 were changed from Type I interferonopathy; Aicardi-Goutières syndrome to Aicardi-Goutières syndrome-like; Type 1 interferonopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.391 | RNU7-1 |
Arina Puzriakova Tag watchlist was removed from gene: RNU7-1. Tag for-review tag was added to gene: RNU7-1. |
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Primary immunodeficiency or monogenic inflammatory bowel disease v2.391 | RNU7-1 | Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Boaz Palterer. Currently only one paper (PMID: 33230297) indicating pathogenicity of RNU7-1 variants, which also reports on a healthy individual with biallelic rare variants in this gene. Rating Amber awaiting further publications/clinical evidence to corroborate this gene-disease association (added 'watchlist' tag); to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.391 | RNU7-1 |
Arina Puzriakova changed review comment from: 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 which is relevant to this panel. 4/12 variants were observed in 2 or more families. Some functional data showing a disturbance of histone RNA processing in patient-derived compared to control fibroblasts. However, RNU7-1 variants have also been reported in control populations. 7 variants are recorded in gnomAD at a frequency of ≤0.005, and screening of 663 controls yielded 1 healthy individual with biallelic rare variants in RNU7-1 (Supplementary Table 4).; to: 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. Some functional data showing a disturbance of histone RNA processing in patient-derived compared to control fibroblasts. |
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Primary immunodeficiency or monogenic inflammatory bowel disease v2.383 | RNU7-1 | Arina Puzriakova Tag watchlist tag was added to gene: RNU7-1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.383 | RNU7-1 | Arina Puzriakova Phenotypes for gene: RNU7-1 were changed from Type I interferonopathy, Aicardi-Goutières syndrome to Type I interferonopathy; Aicardi-Goutières syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.382 | RNU7-1 | Arina Puzriakova Classified gene: RNU7-1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.382 | RNU7-1 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Currently only one paper (PMID: 33230297) indicating pathogenicity of RNU7-1 variants, which also reports on a healthy individual with biallelic rare variants in this gene. Rating Amber awaiting further publications/clinical evidence to corroborate this gene-disease association (added 'watchlist' tag) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.382 | RNU7-1 | Arina Puzriakova Gene: rnu7-1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.381 | RNU7-1 | Arina Puzriakova reviewed gene: RNU7-1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33230297; Phenotypes: Type I interferonopathy, Aicardi–Goutières syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.379 | RNU7-1 |
Boaz Palterer 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 Added comment: 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 |