Cerebral vascular malformations
Gene: YY1AP1

YY1AP1 (YY1 associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000163374
EnsemblGeneIds (GRCh37): ENSG00000163374
OMIM: 607860, Gene2Phenotype
YY1AP1 is in 4 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Established gene-disease association with affected individuals having imaging findings having abnormalities in cerebral vessels.
Created: 18 Nov 2024, 4:01 a.m. | Last Modified: 18 Nov 2024, 4:01 a.m.

Panel Version: 0.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
grange syndrome MONDO:0011243

Publications

Created: 18 Nov 2024, 4:01 a.m.
Last Modified: 18 Nov 2024, 4:01 a.m.
Panel version: 0.39

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Genomics England PanelApp
Expert Review Green

Phenotypes

Grange syndrome, 602531

OMIM

607860

Clinvar variants

Variants in YY1AP1

Penetrance

None

Panels with this gene

History Filter Activity

18 May 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: YY1AP1 was added gene: YY1AP1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: YY1AP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: YY1AP1 were set to Grange syndrome, 602531

Cerebral vascular malformations Gene: YY1AP1