Cerebral vascular malformations

Gene: YY1AP1

Green List (high evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

New gene rated Green - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Created: 29 Nov 2019, 3:41 p.m. | Last Modified: 29 Nov 2019, 3:41 p.m.
Panel Version: 1.58
Comment on list classification: Changed rating from Red to Green - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations
Created: 29 Nov 2019, 3:38 p.m. | Last Modified: 29 Nov 2019, 3:38 p.m.
Panel Version: 1.56
Review from clinical expert (Vijeya Ganesan: GOSH / ICH): considered relevant for this panel.
Sources: Expert list
Created: 29 Nov 2019, 3:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Grange syndrome, 602531

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Grange syndrome, 602531
OMIM
607860
Clinvar variants
Variants in YY1AP1
Penetrance
None
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to YY1AP1.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to YY1AP1.

29 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: yy1ap1 has been classified as Green List (High Evidence).

29 Nov 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

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