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  2. Fetal anomalies
  3. PPP2R5D
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Fetal anomalies

Gene: PPP2R5D

Green List (high evidence)
PPP2R5D (protein phosphatase 2 regulatory subunit B'delta)
EnsemblGeneIds (GRCh38): ENSG00000112640
EnsemblGeneIds (GRCh37): ENSG00000112640
OMIM: 601646, Gene2Phenotype
PPP2R5D is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 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: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Could present as ventriculomegaly.
Created: 4 Apr 2019, 10:28 a.m.
DDG2P rating in original PAGE list: Confirmed for INTELLECTUAL DISABILITY
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as Dominant negative.
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: 0.153

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
OMIM
601646
Clinvar variants
Variants in PPP2R5D
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PPP2R5D was added gene: PPP2R5D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PPP2R5D were set to INTELLECTUAL DISABILITY