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Childhood onset dystonia, chorea or related movement disorder

Gene: RNASEH2C

Green List (high evidence)
RNASEH2C (ribonuclease H2 subunit C)
EnsemblGeneIds (GRCh38): ENSG00000172922
EnsemblGeneIds (GRCh37): ENSG00000172922
OMIM: 610330, Gene2Phenotype
RNASEH2C is in 17 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Confirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Multiple families and founder effect described
Created: 12 Dec 2019, 3:37 p.m. | Last Modified: 12 Dec 2019, 3:37 p.m.
Panel Version: 0.257
Created: 12 Dec 2019, 3:37 p.m.
Last Modified: 12 Dec 2019, 3:37 p.m.
Panel version: 0.257

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

Green List (high evidence)

Suggested by Huw and Raquel
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.
Panel Version: 0.9
Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 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

12 Dec 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag founder-effect tag was added to gene: RNASEH2C.

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to RNASEH2C. Mode of inheritance for gene RNASEH2C was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Aicardi-Goutieres syndrome 3, 610329 for gene: RNASEH2C

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: RNASEH2C was added gene: RNASEH2C was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: RNASEH2C was set to