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Newborns main panel

Gene: PROK2

Green List (high evidence)

PROK2 (prokineticin 2)
EnsemblGeneIds (GRCh38): ENSG00000163421
EnsemblGeneIds (GRCh37): ENSG00000163421
OMIM: 607002, Gene2Phenotype
PROK2 is in 3 panels

1 review

Arina Puzriakova (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 17959774 - AR - 1 family PMID: 18682503 - AR - 1 family PMID: 18559922 - AR - 1 family. PMID: 18285834 - AR - 2 families. Dominant cases have variable penetrance - some asymptomatic
Created: 31 Dec 2025, 2:27 p.m. | Last Modified: 31 Dec 2025, 2:27 p.m.
Panel Version: 0.498

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 4 with or without anosmia
OMIM
607002
Clinvar variants
Variants in PROK2
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: PROK2 was added gene: PROK2 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: PROK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROK2 were set to Hypogonadotropic hypogonadism 4 with or without anosmia