Nucleotide metabolism disorders
Gene: RNASEH2A

RNASEH2A (ribonuclease H2 subunit A)
EnsemblGeneIds (GRCh38): ENSG00000104889
EnsemblGeneIds (GRCh37): ENSG00000104889
OMIM: 606034, Gene2Phenotype
RNASEH2A is in 20 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

>10 families reported
Created: 21 Feb 2022, 12:32 a.m. | Last Modified: 21 Feb 2022, 12:32 a.m.

Panel Version: 0.11009

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 4 MIM#610333

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 21 Feb 2022, 12:32 a.m.
Last Modified: 21 Feb 2022, 12:32 a.m.
Panel version: Imported from Mendeliome panel version 0.11009

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Disorders of ectonucleotide and nucleic acid metabolism
Aicardi-Goutieres syndrome MONDO:0018866

OMIM

606034

Clinvar variants

Variants in RNASEH2A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RNASEH2A was added gene: RNASEH2A was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2A were set to 25604658; 23592335; 20301648 Phenotypes for gene: RNASEH2A were set to Disorders of ectonucleotide and nucleic acid metabolism; Aicardi-Goutieres syndrome MONDO:0018866

Nucleotide metabolism disorders Gene: RNASEH2A