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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 3 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on phenotypes: The 'INTELLECTUAL DUSBILITY' phenotype is imported from DD-Gene2Phenotype. Added 'Intellectual disability' so the correct spelling is present for search purposes.
Created: 30 Apr 2019, 1:04 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.
Created: 29 Apr 2019, 2:52 p.m.
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, 3:29 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, 3:28 p.m.
DDG2P rating in original PAGE list: Probable for INTELLECTUAL DUSBILITY
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as Activating for 'INTELLECTUAL DUSBILITY'.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.225

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DUSBILITY
  • Craniofacial Neurological Cardiovascular and Skeletal Features
  • Intellectual disability
Tags
watchlist
OMIM
600346
Clinvar variants
Variants in PCGF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2019, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Green was added to PCGF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

19 Apr 2019, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: PCGF2.

19 Apr 2019, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: PCGF2 were set to

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

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: PCGF2 was added gene: PCGF2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber 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