1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. RNASEH2B
Genes in panel
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Adult onset dystonia, chorea or related movement disorder

Gene: RNASEH2B

Red List (low evidence)
RNASEH2B (ribonuclease H2 subunit B)
EnsemblGeneIds (GRCh38): ENSG00000136104
EnsemblGeneIds (GRCh37): ENSG00000136104
OMIM: 610326, Gene2Phenotype
RNASEH2B is in 19 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Created: 19 Jun 2019, 4:50 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.
Created: 23 Apr 2019, 12:18 p.m.

Panel version: 0.88

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Numerous variants reported. Dystonia can be a feature. Onset in infancy
Created: 23 Apr 2019, 12:14 p.m.

Phenotypes
Aicardi-Goutieres syndrome 2, 610181

Publications

Created: 23 Apr 2019, 12:14 p.m.

Panel version: 0.49

History Filter Activity

29 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2, 610181; Dystonia to Aicardi-Goutieres syndrome 2, OMIM:610181; Dystonia (onset in infancy)

29 Nov 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: RNASEH2B was changed from to BIALLELIC, autosomal or pseudoautosomal

23 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Aicardi-Goutieres syndrome 2, 610181 for gene: RNASEH2B Publications for gene RNASEH2B were changed from to 17846997; 25604658; 16845400

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RNASEH2B.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to RNASEH2B.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: RNASEH2B was added gene: RNASEH2B was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: RNASEH2B was set to Phenotypes for gene: RNASEH2B were set to Dystonia