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Fetal anomalies

Gene: RNU7-1

Green List (high evidence)
RNU7-1 (RNA, U7 small nuclear 1)
EnsemblGeneIds (GRCh38): ENSG00000238923
EnsemblGeneIds (GRCh37): ENSG00000238923
RNU7-1 is in 6 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: OMIM phenotype accessed on 20-03-2026
Created: 20 Mar 2026, 10:26 a.m. | Last Modified: 20 Mar 2026, 10:26 a.m.
Panel Version: 6.170
The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Esther Kinning (NHS Greater Glasgow and Clyde)

Green List (high evidence)

Consistency check - other Aicardi-Goutieres genes are on the panel. Adequate cases, Aicardi Goutieres with brain anomalies can be seen antenatally.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 9 OMIM:619487

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 9, OMIM:619487
  • Type I interferonopathy
Tags
locus-type-rna-small-nuclear
Clinvar variants
Variants in RNU7-1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RNU7-1 were changed from Aicardi-Goutieres syndrome 9 OMIM:619487 to Aicardi-Goutieres syndrome 9, OMIM:619487; Type I interferonopathy

20 Mar 2026, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked was removed from gene: RNU7-1.

19 Mar 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

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

10 Mar 2026, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: RNU7-1 were set to

10 Mar 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

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

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Aicardi-Goutieres syndrome 9 OMIM:619487 for gene: RNU7-1

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: RNU7-1 was added gene: RNU7-1 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal