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DDG2P

Gene: PCGF2

Green List (high evidence)
PCGF2 (polycomb group ring finger 2)
EnsemblGeneIds (GRCh38): ENSG00000277258
EnsemblGeneIds (GRCh37): ENSG00000056661
OMIM: 600346, Gene2Phenotype
PCGF2 is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease PCGF2-related craniofacial neurological cardiovascular and skeletal features (Turnpenny-Fry syndrome), OMIM:618371 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 30526864;34750959;36105049;30343942).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.
Panel Version: 5.3
The DDG2P confidence category for the disease Craniofacial Neurological Cardiovascular and Skeletal Features is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30526864).

The DDG2P confidence category for the disease INTELLECTUAL DISABILITY is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 7 Oct 2023, 8:11 a.m.
Panel Version: 3.56

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

Phenotypes
PCGF2-related craniofacial neurological cardiovascular and skeletal features (Turnpenny-Fry syndrome), OMIM:618371

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 7 Oct 2023, 8:11 a.m.
Panel version: 5.31

Rebecca Foulger (Genomics England curator)

I don't know

Added 'watchlist' tag to reflect multiple Disease confidence ratings for different disorders in Gene2Phenotype: Rated probable for INTELLECTUAL DUSBILITY. Rated confirmed for Craniofacial Neurological Cardiovascular and Skeletal.
Created: 19 Apr 2019, 3:25 p.m.
Comment on list classification: Updated rating from Amber to Green to reflect 'confirmed' disorder added to Gene2Phenotype in March 2019 (Craniofacial Neurological Cardiovascular and Skeletal).
Created: 19 Apr 2019, 3:23 p.m.
New gene:disorder association added to DDG2P in March 2019: Craniofacial Neurological Cardiovascular and Skeletal Features. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
Created: 19 Apr 2019, 3:22 p.m.
Original DDG2P rating for INTELLECTUAL DUSBILITY: probable. DDG2P mode of pathogenicity: activating. DDG2P mode of inheritance: monoallelic.
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 1.30

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • PCGF2-related craniofacial neurological cardiovascular and skeletal features (Turnpenny-Fry syndrome), OMIM:618371
OMIM
600346
Clinvar variants
Variants in PCGF2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

21 Feb 2025, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: PCGF2 were set to 30526864

21 Feb 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: PCGF2 were changed from INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features to PCGF2-related craniofacial neurological cardiovascular and skeletal features (Turnpenny-Fry syndrome), OMIM:618371

7 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: PCGF2.

4 Oct 2023, Gel status: 3

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene PCGF2 was changed from Other - please provide details in the comments to Other Publications for gene: PCGF2 were updated from to 30526864

19 Apr 2019, Gel status: 3

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: PCGF2.

19 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

19 Apr 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: PCGF2 were changed from INTELLECTUAL DUSBILITY to INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: PCGF2 was added gene: PCGF2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PCGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PCGF2 were set to INTELLECTUAL DUSBILITY Mode of pathogenicity for gene: PCGF2 was set to Other - please provide details in the comments