TEST Undiagnosed metabolic disorders
Gene: RNASEH2C

RNASEH2C (ribonuclease H2 subunit C)
EnsemblGeneIds (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

Literature
Expert Review Amber

OMIM

610330

Clinvar variants

Variants in RNASEH2C

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
Early onset or syndromic epilepsy
Likely inborn error of metabolism
Early onset dystonia
Intellectual disability
Juvenile dermatomyositis
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: RNASEH2C was added gene: RNASEH2C was added to TEST Undiagnosed metabolic disorders. Sources: Expert Review Amber,Literature Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2C were set to 27604308

TEST Undiagnosed metabolic disorders Gene: RNASEH2C

0 reviews

Details

History Filter Activity

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

TEST Undiagnosed metabolic disorders
Gene: RNASEH2C