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Childhood onset dystonia, chorea or related movement disorder

Gene: RNASEH2A

Amber List (moderate evidence)
RNASEH2A (ribonuclease H2 subunit A)
EnsemblGeneIds (GRCh38): ENSG00000104889
EnsemblGeneIds (GRCh37): ENSG00000104889
OMIM: 606034, Gene2Phenotype
RNASEH2A is in 18 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Confirmed Amber rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Aicardi-Goutieres syndrome 4 (many other genes causing Aicardi-Goutieres are green) but this type do not have movement disorders as part of the phenotype.
Created: 12 Dec 2019, 3:46 p.m. | Last Modified: 12 Dec 2019, 3:46 p.m.
Panel Version: 0.258
Created: 12 Dec 2019, 3:46 p.m.
Last Modified: 12 Dec 2019, 3:46 p.m.
Panel version: 0.258

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust (South West GLH). Requires clinical input to determine whether appropriate to include and promote to Green.
Created: 6 Dec 2019, 5:19 p.m. | Last Modified: 6 Dec 2019, 5:19 p.m.
Panel Version: 0.21
Created: 6 Dec 2019, 5:19 p.m.
Last Modified: 6 Dec 2019, 5:19 p.m.
Panel version: 0.21

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Emily Jones (North Bristol NHS Trust)

I don't know

Numerous variants reported. Dystonia can be a feature. May be appropriate to include following clinical input.
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH panel version 0.10

History Filter Activity

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: rnaseh2a has been classified as Amber List (Moderate Evidence).

6 Dec 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to RNASEH2A. Mode of inheritance for gene RNASEH2A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Aicardi-Goutieres syndrome 4, 610333 for gene: RNASEH2A

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: RNASEH2A was added gene: RNASEH2A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: RNASEH2A was set to