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  2. Early onset dystonia
  3. YY1
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Early onset dystonia

Gene: YY1

Green List (high evidence)
YY1 (YY1 transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000100811
EnsemblGeneIds (GRCh37): ENSG00000100811
OMIM: 600013, Gene2Phenotype
YY1 is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM and as a probable G2P for intellectual disability. At least 5 variants reported in unrelated cases
Created: 22 Aug 2017, 9:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Gabriele-de Vries syndrome 617557

Publications

Created: 22 Aug 2017, 9:03 a.m.

Panel version: 1.30

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Gabriele-de Vries syndrome 617557
OMIM
600013
Clinvar variants
Variants in YY1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Aug 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

YY1 was added to Early onset dystoniapanel. Sources: Literature

22 Aug 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

YY1 was created by sleigh