Nucleotide metabolism disorders
Gene: RNASEH2B

RNASEH2B (ribonuclease H2 subunit B)
EnsemblGeneIds (GRCh38): ENSG00000136104
EnsemblGeneIds (GRCh37): ENSG00000136104
OMIM: 610326, Gene2Phenotype
RNASEH2B is in 21 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, more than 30 unrelated families reported.
Created: 22 Dec 2020, 7:24 a.m. | Last Modified: 22 Dec 2020, 7:24 a.m.

Panel Version: 0.5772

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 2, MIM# 610181

Publications

Created: 22 Dec 2020, 7:24 a.m.
Last Modified: 22 Dec 2020, 7:24 a.m.
Panel version: Imported from Mendeliome panel version 0.5772

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

610326

Clinvar variants

Variants in RNASEH2B

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: RNASEH2B was added gene: RNASEH2B was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2B were set to 33307271; 29239743; 16845400 Phenotypes for gene: RNASEH2B were set to Disorders of ectonucleotide and nucleic acid metabolism; Aicardi-Goutieres syndrome MONDO:0018866

Nucleotide metabolism disorders Gene: RNASEH2B