White matter disorders and cerebral calcification - narrow panel
Gene: RNASEH2BEnsemblGeneIds (GRCh38): ENSG00000136104
EnsemblGeneIds (GRCh37): ENSG00000136104
OMIM: 610326, Gene2Phenotype
RNASEH2B is in 19 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Aicardi-Goutieres syndrome 2, OMIM:610181
- OMIM
- 610326
- Clinvar variants
- Variants in RNASEH2B
- 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
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Juvenile dermatomyositis
- Hereditary spastic paraplegia
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Aicardi-Goutieres syndrome 2 to Aicardi-Goutieres syndrome 2, OMIM:610181
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 2 for gene: RNASEH2B Publications for gene RNASEH2B were changed from Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_586 to 25604658
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: RNASEH2B was added gene: RNASEH2B was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2B were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_586 Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Aicardi-Goutieres syndrome 2