Intracerebral calcification disorders
Gene: RNASEH2CEnsemblGeneIds (GRCh38): ENSG00000172922
EnsemblGeneIds (GRCh37): ENSG00000172922
OMIM: 610330, Gene2Phenotype
RNASEH2C is in 17 panels
2 reviews
Yanick Crow (University of Manchester)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutières syndrome
Publications
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Identifed in 3/4 original sources. Gene rated green and diagnostic-grade by expert reviewer, and is a confirmed DD gene for AICARDI-GOUTIERES SYNDROME 3. Two variants reported in OMIM, one in multiple consanguineous Pakistani families, the other in a consanguineous Bangladeshi family. A publication search revealed a third variant reported in two brothers (parents were heterozygous) - PMID: 27411419.Created: 9 Sep 2016, 10:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 3
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Other
- Eligibility statement prior genetic testing
- UKGTN
- Phenotypes
-
- Aicardi-Goutieres syndrome 3
- Aicardi-Goutieres Syndrome
- OMIM
- 610330
- Clinvar variants
- Variants in RNASEH2C
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset or syndromic epilepsy
- DDG2P
- Intracerebral calcification disorders
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- COVID-19 research
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Early onset dystonia
- Juvenile dermatomyositis
- Fetal anomalies
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and internal curation review.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for RNASEH2C were set to 25604658
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)RNASEH2C was added to Intracerebral calcification disorderspanel. Source: Emory Genetics Laboratory
Added New Source
Olivia Niblock (Genomics England Curator)RNASEH2C was added to Intracerebral calcification disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene RNASEH2C were set to Aicardi-Goutieres syndrome 3
Upload gene information
Ellen McDonagh (Genomics England Curator)RNASEH2C was added to Intracerebral calcification disorderspanel. Sources: Other
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene RNASEH2C were set to Aicardi-Goutieres Syndrome; Aicardi-Goutieres syndrome 3
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene RNASEH2C were set to Aicardi-Goutieres Syndrome
Added New Source
Ellen McDonagh (Genomics England Curator)RNASEH2C was added to Intracerebral calcification disorderspanel. Sources: UKGTN, Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)RNASEH2C was created by ellenmcdonagh