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  3. RNASEH2A
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Dystonia - complex

Gene: RNASEH2A

Red List (low evidence)
RNASEH2A (ribonuclease H2 subunit A)
EnsemblGeneIds (GRCh38): ENSG00000104889
EnsemblGeneIds (GRCh37): ENSG00000104889
OMIM: 606034, Gene2Phenotype
RNASEH2A is in 20 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single case reported with dystonia as a feature of the condition.
Sources: Expert list
Created: 6 Apr 2020, 5:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 4 MIM#610333

Publications

Created: 6 Apr 2020, 5:36 a.m.

Panel version: 0.39

History Filter Activity

6 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnaseh2a has been classified as Red List (Low Evidence).

6 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RNASEH2A was added gene: RNASEH2A was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2A were set to 20131292 Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4 MIM#610333 Review for gene: RNASEH2A was set to RED