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Fetal anomalies

Gene: PCGF2

Green List (high evidence)

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

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

History Filter Activity

2 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pcgf2 has been classified as Green List (High Evidence).

2 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PCGF2 were changed from Craniofacial Neurological Cardiovascular and Skeletal Features; Intellectual disability; INTELLECTUAL DUSBILITY to Turnpenny-Fry syndrome, MIM# 618371

2 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PCGF2 were set to 30526864

2 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PCGF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PCGF2 was added gene: PCGF2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PCGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PCGF2 were set to 30526864 Phenotypes for gene: PCGF2 were set to Craniofacial Neurological Cardiovascular and Skeletal Features; Intellectual disability; INTELLECTUAL DUSBILITY