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Skeletal dysplasia

Gene: YY1

Green List (high evidence)

YY1 (YY1 transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000100811
EnsemblGeneIds (GRCh37): ENSG00000100811
OMIM: 600013, Gene2Phenotype
YY1 is in 5 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

10 unrelated patients reported with a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability. Most have mild intrauterine growth retardation. The phenotype is highly variable; many reported with congenital abnormalities including skeletal abnormalities, craniosynostosis, ventriculomegaly.
Created: 20 Dec 2021, 6:03 a.m. | Last Modified: 20 Dec 2021, 6:03 a.m.
Panel Version: 0.10312

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Gabriele-de Vries syndrome, OMIM #617557

Publications

Details

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

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: YY1 was added gene: YY1 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,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 617557; Gabriele-de Vries syndrome 617557