Aortopathy_Connective Tissue Disorders
Gene: PCGF2

PCGF2 (polycomb group ring finger 2)
EnsemblGeneIds (GRCh38): ENSG00000277258
EnsemblGeneIds (GRCh37): ENSG00000056661
OMIM: 600346, Gene2Phenotype
PCGF2 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Aortic dilatation is a common feature of this syndrome.
Created: 25 Jun 2020, 6:19 a.m. | Last Modified: 25 Jun 2020, 6:19 a.m.

Panel Version: 0.29

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Turnpenny-Fry syndrome, MIM#618371

Publications

30343942

Created: 25 Jun 2020, 6:19 a.m.
Last Modified: 25 Jun 2020, 6:19 a.m.
Panel version: 1.5

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

Not reviewed by ClinGen Aortopathy Working Group.

Not on any relevant PanelApp UK panel although green on others.

11 unrelated individuals and a pair of monozygotic twins were reported all with missense variants at proline 65 in the context of Turnpenny-Fry Syndrome. 5 individuals had aortic dilatation.
Created: 25 Jun 2020, 3:50 a.m. | Last Modified: 25 Jun 2020, 4:57 a.m.

Panel Version: 0.26

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Turnpenny-Fry syndrome, MIM#600346

Publications

30343942

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

Created: 25 Jun 2020, 3:50 a.m.
Last Modified: 25 Jun 2020, 4:57 a.m.
Panel version: 0.26

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Turnpenny-Fry syndrome, MIM#618371

OMIM

600346

Clinvar variants

Variants in PCGF2

Penetrance

None

Publications

30343942

Panels with this gene