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Fetal anomalies

Gene: PKD2

Green List (high evidence)

PKD2 (polycystin 2, transient receptor potential cation channel)
EnsemblGeneIds (GRCh38): ENSG00000118762
EnsemblGeneIds (GRCh37): ENSG00000118762
OMIM: 173910, Gene2Phenotype
PKD2 is in 20 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional evidence from PMID:30712878: Maternally inherited variant identified in PKD2 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).
Created: 18 Apr 2019, 3:57 p.m.
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.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed.
Created: 11 Dec 2018, 9:05 a.m.

Publications

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: PKD2 was added gene: PKD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PKD2 were set to Polycystic kidney disease 613095