1. Panels
  2. Newborns main panel
  3. RNASEH2A
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: RNASEH2A

Amber List (moderate evidence)
RNASEH2A (ribonuclease H2 subunit A)
EnsemblGeneIds (GRCh38): ENSG00000104889
EnsemblGeneIds (GRCh37): ENSG00000104889
OMIM: 606034, Gene2Phenotype
RNASEH2A is in 18 panels

1 review

Mafalda Gomes (Genomics England Curator)

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: 35551623 - 1 casePMID: 31130681 - 2 casesPMID: 25604658 - 14 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: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

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 RNASEH2A. 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 4 for gene: RNASEH2A

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 RNASEH2A. Added phenotypes Aicardi-Goutieres syndrome 4 for gene: RNASEH2A 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 RNASEH2A. Added phenotypes Aicardi-Goutieres syndrome 4 for gene: RNASEH2A 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: RNASEH2A was added gene: RNASEH2A was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4