Genes in panel

Likely inborn error of metabolism - targeted testing not possible


Red List (low evidence)

RNASEH2A (ribonuclease H2 subunit A)
EnsemblGeneIds (GRCh38): ENSG00000104889
EnsemblGeneIds (GRCh37): ENSG00000104889
OMIM: 606034, Gene2Phenotype
RNASEH2A is in 19 panels

3 reviews

Saikat Santra (Birmingham Children's Hospital)

Green List (high evidence)

I note these genes have been demoted - whilst they may not have a metabolic biochemical phenotype of themselves, they appear in the differential diagnosis of a child with a suspected metabolic, especially mitochondrial/white matter disorder - and it is increasingly common for WGS to be used early in the evaluation of these patients. With the development of inherited white matter disease services it is appropriate for some genes like those for AGS to appear in both R98 and R109 in my opinion.
Intracerebral calcification disorders; Inherited White Matter Disorders, Inherited basal ganglia disease
Created: 23 Jan 2024, 11:44 a.m. | Last Modified: 23 Jan 2024, 11:44 a.m.
Panel Version: 4.122

Intracerebral calcification disorders; Inherited White Matter Disorders, Inherited basal ganglia disease

Ivone Leong (Genomics England Curator)

RNASEH2A is associated with Aicardi-Goutieres syndrome 4 on OMIM and Gene2Phenotype. There are >3 unrelated cases on OMIM supporting the gene-disease link between RNASEH2A with Aicardi-Goutieres syndrome; however, RNASEH2A does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red.
Created: 20 Sep 2019, 9:12 a.m. | Last Modified: 20 Sep 2019, 9:18 a.m.
Panel Version: 1.271
This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Created: 20 Sep 2019, 8:34 a.m. | Last Modified: 20 Sep 2019, 8:34 a.m.
Panel Version: 1.271

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Saikat Santra (Birmingham Children's Hospital)(23 Jan 2024), has suggested that this gene should be green on this panel - R98.
Created: 26 Feb 2024, 1:41 p.m. | Last Modified: 26 Feb 2024, 1:41 p.m.
Panel Version: 4.131
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Intracerebral calcification disorders

History Filter Activity

26 Feb 2024, Gel status: 1

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q1_24_promote_green tag was added to gene: RNASEH2A. Tag Q1_24_NHS_review tag was added to gene: RNASEH2A.

20 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: rnaseh2a has been classified as Red List (Low Evidence).

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RNASEH2A. Source London North GLH was added to RNASEH2A.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: RNASEH2A was added gene: RNASEH2A was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2A were set to 27604308 Phenotypes for gene: RNASEH2A were set to Intellectual disability; Intracerebral calcification disorders; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4; Inherited white matter disorders