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Newborns main panel

Gene: RNU7-1

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

1 review

Mafalda Gomes (Genomics England Curator)

This gene does not have a MANE transcript. The transcript that will be used is ENST00000458811.1 (equivalent to RefSeq NR_023317) as this is the only Ensembl transcript.
Created: 27 Jul 2023, 12:55 p.m. | Last Modified: 27 Jul 2023, 1:06 p.m.
Panel Version: 0.224
The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 33230297 - 11 families
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 27 Jul 2023, 1:06 p.m.
Panel version: 0.224

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Aicardi-Goutieres syndrome 9
Transcripts
  • ENST00000458811.1
  • NR_023317
Clinvar variants
Variants in RNU7-1
Penetrance
None
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 2

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to RNU7-1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

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

27 Jul 2023, Gel status: 3

Set transcript

Mafalda Gomes (Genomics England Curator)

Transcript for gene RNU7-1 was changed from None to ENST00000458811.1; NR_023317

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to RNU7-1. Added phenotypes Aicardi-Goutieres syndrome 9 for gene: RNU7-1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to RNU7-1. Added phenotypes Aicardi-Goutieres syndrome 9 for gene: RNU7-1 Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: RNU7-1 was added gene: RNU7-1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNU7-1 were set to Aicardi-Goutieres syndrome 9