Adult onset dystonia, chorea or related movement disorder
Gene: YY1EnsemblGeneIds (GRCh38): ENSG00000100811
EnsemblGeneIds (GRCh37): ENSG00000100811
OMIM: 600013, Gene2Phenotype
YY1 is in 8 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 19 Sep 2019, 1:52 p.m. | Last Modified: 19 Sep 2019, 1:52 p.m.
Panel Version: 0.113
Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019Created: 13 Aug 2019, 11:48 a.m. | Last Modified: 13 Aug 2019, 11:48 a.m.
Panel Version: 0.99
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming new Amber review (from Red) and flagged for further discssion with the GMS Neurology specialist test group: Gabriele-de Vries syndrome - phenotype variable - ?DISCUSSCreated: 13 Aug 2019, 11:38 a.m. | Last Modified: 13 Aug 2019, 11:38 a.m.
Panel Version: 0.98
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- NHS GMS
- London North GLH
- Phenotypes
-
- Gabriele-de Vries syndrome, OMIM:617557
- OMIM
- 600013
- Clinvar variants
- Variants in YY1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: YY1 were changed from Gabriele-de Vries syndrome to Gabriele-de Vries syndrome, OMIM:617557
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: yy1 has been classified as Amber List (Moderate Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to YY1.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to YY1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: YY1 was added gene: YY1 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: YY1 were set to 28575647 Phenotypes for gene: YY1 were set to Gabriele-de Vries syndrome