White matter disorders and cerebral calcification - narrow panel
Gene: RNASEH2CEnsemblGeneIds (GRCh38): ENSG00000172922
EnsemblGeneIds (GRCh37): ENSG00000172922
OMIM: 610330, Gene2Phenotype
RNASEH2C is in 17 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Aicardi-Goutieres Syndrome 3
- Aicardi-Goutieres Syndrome
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Aicardi-Goutieres syndrome 3
- OMIM
- 610330
- Clinvar variants
- Variants in RNASEH2C
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intracerebral calcification disorders
- Likely inborn error of metabolism
- COVID-19 research
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Fetal anomalies
- Adult onset leukodystrophy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Juvenile dermatomyositis
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
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; Aicardi-Goutieres syndrome 3 for gene: RNASEH2C Publications for gene RNASEH2C were changed from 27411419; 25655951 to 25604658
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: RNASEH2C was added gene: RNASEH2C was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2C were set to 27411419; 25655951 Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres Syndrome 3; General Leukodystrophy & Mitochondrial Leukoencephalopathy