Fetal anomalies
Gene: PROKR2

PROKR2 (prokineticin receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000101292
EnsemblGeneIds (GRCh37): ENSG00000101292
OMIM: 607123, Gene2Phenotype
PROKR2 is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

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: Phenotype is not fetally-relevant. Additional notes from clinical review: PMID:17054399 comments that PROKR2-associated Kallmann syndrome is not associated with structural features. Action taken: Demoted PROKR2 gene rating from Green to Red.
Created: 29 Apr 2019, 12:28 p.m.

DDG2P rating in original PAGE list: Confirmed.
Created: 11 Dec 2018, 9:05 a.m.

In the original PAGE file, MOP listed as Uncertain.
Created: 8 Nov 2018, 4:45 p.m.

Publications

17054399

Mode of pathogenicity
Other - please provide details in the comments

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

Panel version: 0.222

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
PAGE Additional Gene List

Phenotypes

Hypogonadotropic hypogonadism 3 with or without anosmia 244200

OMIM

607123

Clinvar variants

Variants in PROKR2

Penetrance

None

Publications

17054399

Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 1

Added New Source, Set publications, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to PROKR2. Publications for gene PROKR2 were changed from to 17054399 Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PROKR2 was added gene: PROKR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia 244200

Fetal anomalies Gene: PROKR2