Disorders of immune dysregulation
Gene: RNASEH2C

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

2 reviews

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 5 Apr 2020, 11:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 3, MIM# 610329

Created: 5 Apr 2020, 11:04 a.m.

Panel version: Imported from Systemic Autoinflammatory Disease_Periodic Fever panel version 0.20

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
Expert list
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services
Expert Review Green

OMIM

610330

Clinvar variants

Variants in RNASEH2C

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RNASEH2C was added gene: RNASEH2C was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: RNASEH2C was set to Unknown

Disorders of immune dysregulation Gene: RNASEH2C