White matter disorders and cerebral calcification - childhood onset
Gene: RNASEH2AEnsemblGeneIds (GRCh38): ENSG00000104889
EnsemblGeneIds (GRCh37): ENSG00000104889
OMIM: 606034, Gene2Phenotype
RNASEH2A is in 18 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Aicardi-Goutieres syndrome 4
- Aicardi-Goutieres Syndrome
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- OMIM
- 606034
- Clinvar variants
- Variants in RNASEH2A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intracerebral calcification disorders
- COVID-19 research
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Early onset or syndromic epilepsy
- Fetal anomalies
- Hydrocephalus
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Juvenile dermatomyositis
- DDG2P
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Likely inborn error of metabolism
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Added phenotypes Aicardi-Goutieres syndrome 4; Aicardi-Goutieres Syndrome for gene: RNASEH2A Publications for gene RNASEH2A were changed from Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_585 to 25604658
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: RNASEH2A was added gene: RNASEH2A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2A were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_585 Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy