TEST Undiagnosed metabolic disorders
Gene: RNASEH2A

RNASEH2A (ribonuclease H2 subunit A)
EnsemblGeneIds (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

Literature
Expert Review Amber

OMIM

606034

Clinvar variants

Variants in RNASEH2A

Penetrance

None

Publications

27604308

Panels with this gene

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

History Filter Activity

20 Aug 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

gene: RNASEH2A was added gene: RNASEH2A was added to TEST Undiagnosed metabolic disorders. Sources: Expert Review Amber,Literature Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2A were set to 27604308

TEST Undiagnosed metabolic disorders Gene: RNASEH2A

0 reviews

Details

History Filter Activity

Created, Added New Source, Set mode of inheritance, Set publications

TEST Undiagnosed metabolic disorders
Gene: RNASEH2A