Brain Calcification
Gene: RNASEH2BEnsemblGeneIds (GRCh38): ENSG00000136104
EnsemblGeneIds (GRCh37): ENSG00000136104
OMIM: 610326, Gene2Phenotype
RNASEH2B is in 21 panels
2 reviews
Yetong Chen (University of Melbourne)
PMID 33482855 reports one patient with variants in RNASEH2B who exhibited intracranial calcification.
PMID 30826161 reports 2 unrelated patients with homozygous RNASEH2B variants (c.529G > A) who developed punctate calcifications in the putamen.
It is worth noticing that PMID 26581299 mentions RNASEH2B variants are inversely associated with severe calcifications.Created: 27 Apr 2023, 5:52 a.m. | Last Modified: 27 Apr 2023, 5:52 a.m.
Panel Version: 1.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 2, MIM# 610181
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association, intracranial calcification is a feature.Created: 22 Dec 2020, 7:20 a.m. | Last Modified: 22 Dec 2020, 7:20 a.m.
Panel Version: 0.86
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 2, MIM# 610181
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Aicardi-Goutieres syndrome 2, MIM# 610181
- OMIM
- 610326
- Clinvar variants
- Variants in RNASEH2B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Nucleotide metabolism disorders
- Prepair 1000+
- Brain Calcification
- BabyScreen+ newborn screening
- Autoinflammatory Disorders
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Disorders of immune dysregulation
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Callosome
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rnaseh2b has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RNASEH2B were changed from to Aicardi-Goutieres syndrome 2, MIM# 610181
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: RNASEH2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RNASEH2B were set to
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RNASEH2B was added gene: RNASEH2B was added to Brain calcification_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RNASEH2B was set to Unknown