Intracerebral calcification disorders
Gene: RNASEH2BEnsemblGeneIds (GRCh38): ENSG00000136104
EnsemblGeneIds (GRCh37): ENSG00000136104
OMIM: 610326, Gene2Phenotype
RNASEH2B is in 19 panels
2 reviews
Yanick Crow (University of Manchester)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutières syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for AICARDI-GOUTIERES SYNDROME 2. Two pathogenic variants reported in OMIM. The ALA177THR rs75184679 variant has been reported in multiple families from different ethnicities. An additional variant AL185GLY rs74555752 was homozygous in 2 unrelated families, and compound heterozygous in a family with European Canadian and Hungarian descent. Found in 3/4 original sources.Created: 9 Sep 2016, 10:06 a.m.
Mode of inheritance sourced from OMIM.Created: 8 Jan 2016, 10:48 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Other
- UKGTN
- Eligibility statement prior genetic testing
- Phenotypes
-
- Aicardi-Goutieres syndrome 2, OMIM:610181
- OMIM
- 610326
- Clinvar variants
- Variants in RNASEH2B
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Intracerebral calcification disorders
- Adult onset leukodystrophy
- Inherited white matter disorders
- COVID-19 research
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Early onset dystonia
- Juvenile dermatomyositis
- Hereditary spastic paraplegia
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2; Aicardi-Goutieres Syndrome to Aicardi-Goutieres syndrome 2, OMIM:610181
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 RNASEH2B 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)RNASEH2B was added to Intracerebral calcification disorderspanel. Source: Emory Genetics Laboratory
Added New Source
Olivia Niblock (Genomics England Curator)RNASEH2B was added to Intracerebral calcification disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene RNASEH2B were set to Aicardi-Goutieres syndrome 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Upload gene information
Ellen McDonagh (Genomics England Curator)RNASEH2B was added to Intracerebral calcification disorderspanel. Sources: Other
Added New Source
Ellen McDonagh (Genomics England Curator)RNASEH2B was added to Intracerebral calcification disorderspanel. Sources: UKGTN, Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)RNASEH2B was created by ellenmcdonagh