This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
Gene: RNASEH2B
RNASEH2B (ribonuclease H2 subunit B)
EnsemblGeneIds (GRCh38): ENSG00000136104
EnsemblGeneIds (GRCh37): ENSG00000136104
OMIM: 610326, Gene2Phenotype
RNASEH2B is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000136104
EnsemblGeneIds (GRCh37): ENSG00000136104
OMIM: 610326, Gene2Phenotype
RNASEH2B is in 19 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Aicardi-Goutieres syndrome 2, MIM#610181
- OMIM
- 610326
- Clinvar variants
- Variants in RNASEH2B
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Intellectual disability
- Adult onset neurodegenerative disorder
- Intracerebral calcification disorders
- COVID-19 research
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset leukodystrophy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset dystonia
- Early onset or syndromic epilepsy
- Juvenile dermatomyositis
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset hereditary spastic paraplegia
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: RNASEH2B was added gene: RNASEH2B was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2, MIM#610181