Brain Calcification
Gene: RNASEH2CEnsemblGeneIds (GRCh38): ENSG00000172922
EnsemblGeneIds (GRCh37): ENSG00000172922
OMIM: 610330, Gene2Phenotype
RNASEH2C is in 20 panels
2 reviews
Yetong Chen (University of Melbourne)
Additional cases are found.
PMID 33681774 reports 6 patients from a big family harbouring a homozygous RNASEH2C variant (p.Glu72_Val73delinsValAla) who developed brain calcification. Additional 7 individuals with phenotypic features of AGS also developed brain calcification, but their genetic profiles are not available. Hence, the 7 patients should not be counted.
PMID 27411419 reports a patient with homozygous RNASEH2C variant (c.196C>T) who revealed brain calcification.Created: 27 Apr 2023, 6:24 a.m. | Last Modified: 27 Apr 2023, 6:24 a.m.
Panel Version: 1.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 3, MIM# 610329
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association, intracranial calcifications are a feature.Created: 22 Dec 2020, 6:42 a.m. | Last Modified: 22 Dec 2020, 6:42 a.m.
Panel Version: 0.73
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 3, MIM# 610329
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Aicardi-Goutieres syndrome 3, MIM# 610329
- OMIM
- 610330
- Clinvar variants
- Variants in RNASEH2C
- 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+
- Callosome
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rnaseh2c has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RNASEH2C were changed from to Aicardi-Goutieres syndrome 3, MIM# 610329
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RNASEH2C were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: RNASEH2C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 Brain calcification_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RNASEH2C was set to Unknown