White matter disorders and cerebral calcification - narrow panel
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
-
- Intracerebral calcification disorders
- Likely inborn error of metabolism
- COVID-19 research
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Adult onset leukodystrophy
- Intellectual disability
- Hydrocephalus
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Juvenile dermatomyositis
- DDG2P
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- Fetal anomalies
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