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  3. YY1AP1
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Spontaneous coronary artery dissection

Gene: YY1AP1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Arterial occlusion is a feature of the disorder, link with SCA plausible, Amber on this panel pending further reports.
Created: 13 Aug 2024, 2:06 a.m. | Last Modified: 13 Aug 2024, 2:06 a.m.
Panel Version: 0.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Grange syndrome, MIM# 602531

Created: 13 Aug 2024, 2:06 a.m.
Last Modified: 13 Aug 2024, 2:06 a.m.
Panel version: 0.51

Ain Roesley (Victorian Clinical Genetics Services)

I don't know


PMID: 33125268
1x individual with a canonical splice + 1x protein truncating variant. However, phasing could not be performed

no other literature found

amber so as to not miss a diagnosis
Sources: Literature
Created: 28 Jun 2024, 7:05 a.m. | Last Modified: 8 Aug 2024, 6:53 a.m.
Panel Version: 0.46

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Grange syndrome, MIM# 602531

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 28 Jun 2024, 7:05 a.m.
Last Modified: 8 Aug 2024, 6:53 a.m.
Panel version: 0.46

Details

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

History Filter Activity

8 Aug 2024, Gel status: 2

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: YY1AP1 were set to

8 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: yy1ap1 has been classified as Amber List (Moderate Evidence).

28 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: yy1ap1 has been classified as Red List (Low Evidence).

28 Jun 2024, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: YY1AP1 was added gene: YY1AP1 was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: YY1AP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: YY1AP1 were set to Grange syndrome, MIM# 602531 Review for gene: YY1AP1 was set to RED gene: YY1AP1 was marked as current diagnostic