Fetal anomalies
Gene: PCGF2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Key features include developmental delay, impaired intellectual development, impaired growth, and recognizable facial features (frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears). Other common findings include feeding problems, constipation, and a range of brain, cardiac, vascular, and skeletal malformations. Head size is variable, with some patients showing relative macrocephaly and others showing microcephaly. Over 10 affected individuals reported to date, all variants affect residue p.Pro65
Created: 2 Sep 2020, 11:40 a.m. | Last Modified: 2 Sep 2020, 11:40 a.m.

Panel Version: 0.2931

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Turnpenny-Fry syndrome, MIM# 618371

Publications

30343942

Created: 2 Sep 2020, 11:40 a.m.
Last Modified: 2 Sep 2020, 11:40 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2931

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

Turnpenny-Fry syndrome, MIM# 618371

OMIM

600346

Clinvar variants

Variants in PCGF2

Penetrance

None

Publications

Panels with this gene