Nucleotide metabolism disorders
Gene: RNASEH2C

RNASEH2C (ribonuclease H2 subunit C)
EnsemblGeneIds (GRCh38): ENSG00000172922
EnsemblGeneIds (GRCh37): ENSG00000172922
OMIM: 610330, Gene2Phenotype
RNASEH2C is in 20 panels

1 review

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established disease gene
Created: 9 Dec 2020, 7:16 a.m. | Last Modified: 9 Dec 2020, 7:16 a.m.

Panel Version: 0.5590

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 3 (MIM# 610329), AR

Publications

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

Created: 9 Dec 2020, 7:16 a.m.
Last Modified: 9 Dec 2020, 7:16 a.m.
Panel version: Imported from Mendeliome panel version 0.5590

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

610330

Clinvar variants

Variants in RNASEH2C

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: RNASEH2C was added gene: RNASEH2C was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2C were set to 24183309; 23322642; 16845400 Phenotypes for gene: RNASEH2C were set to Disorders of ectonucleotide and nucleic acid metabolism; Aicardi-Goutieres syndrome MONDO:0018866

Nucleotide metabolism disorders Gene: RNASEH2C