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  3. YY1AP1
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Stroke

Gene: YY1AP1

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

2 reviews

Natasha Brown (Victorian Clinical Genetics Services)

Green List (high evidence)

Grange syndrome: multiple arterial stenoses, severe early onset hypertension, fibromuscular dysplasia, variable penetrance of brachydactyly, syndactyly, bone fragility, and learning disabilities.

Missense variant reported PMID: 31633303 with moyamoya like phenotype in adult case; fibroblasts suggest that the p.Pro360Leu variant decreases the stability of the YY1AP1 protein but most LOF.

PMID: 30556293 non coding variants reported (intronic variants leading to aberrant splicing)
Created: 10 Mar 2021, 12:58 a.m. | Last Modified: 10 Mar 2021, 12:58 a.m.
Panel Version: 0.70

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 10 Mar 2021, 12:58 a.m.
Last Modified: 10 Mar 2021, 12:58 a.m.
Panel version: 0.70

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 3 cases reported with early-onset stroke
Sources: Literature
Created: 12 May 2020, 8:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Grange syndrome MIM#602531

Publications

Created: 12 May 2020, 8:31 a.m.

Panel version: 0.53

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Grange syndrome MIM#602531
OMIM
607860
Clinvar variants
Variants in YY1AP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: YY1AP1 were set to 31633303; 30356112; 31270375; 22987684; 16691574

12 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

12 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: YY1AP1 was added gene: YY1AP1 was added to Stroke. Sources: Literature Mode of inheritance for gene: YY1AP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YY1AP1 were set to 31633303; 30356112; 31270375; 22987684; 16691574 Phenotypes for gene: YY1AP1 were set to Grange syndrome MIM#602531 Review for gene: YY1AP1 was set to GREEN