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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. YY1
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GMS Musculoskeletal specialist test group Skeletal dysplasia

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

mild intrauterine growth retardation, dysmorphic facies, distal skeletal abnormalities, green - multiple reports; Review on behalf of Tracy Lester/Michael Oldridge
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Gabriele-de Vries syndrome 617557

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Gabriele-de Vries syndrome 617557
OMIM
600013
Clinvar variants
Variants in YY1
Penetrance
None
Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: YY1 was added gene: YY1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: YY1 were set to Gabriele-de Vries syndrome 617557