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  2. Newborns additional phenotypes panel 1
  3. PROKR2
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Newborns additional phenotypes panel 1

Gene: PROKR2

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

1 review

Arina Puzriakova (Genomics England Curator)

Special Consideration: Awareness.

Additional Information: Only male patients with hypogonadotropic hypogonadism should be reported.
Created: 16 Mar 2026, 1:02 p.m. | Last Modified: 16 Mar 2026, 1:02 p.m.
Panel Version: 0.114
Special Consideration: Awareness.

Additional Information: AD MOI was excluded due to reduced penetrance and variable expressivity of heterozygous variants.
Created: 31 Dec 2025, 2:57 p.m. | Last Modified: 16 Mar 2026, 3:12 p.m.
Panel Version: 0.114
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: 0.109
PMID: 36843573 - 435 cases - majority of patients present heterozygous PROKR2 variants. A small number of variants have been found in homozygous fashion (?7%), and an even smaller number of cases present compound heterozygous inheritance (?3%).
Created: 31 Dec 2025, 2:27 p.m. | Last Modified: 31 Dec 2025, 2:27 p.m.
Panel Version: 0.108
Created: 31 Dec 2025, 2:27 p.m.
Last Modified: 16 Mar 2026, 3:12 p.m.
Panel version: 0.114

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 3 with or without anosmia, autosomal recessive
Tags
special_consideration
OMIM
607123
Clinvar variants
Variants in PROKR2
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: PROKR2.

31 Dec 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PROKR2 were changed from Hypogonadotropic hypogonadism 3 with or without anosmia, autosomal dominant; Hypogonadotropic hypogonadism 3 with or without anosmia, autosomal recessive to Hypogonadotropic hypogonadism 3 with or without anosmia, autosomal recessive

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: PROKR2 was added gene: PROKR2 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Green Mode of inheritance for gene: PROKR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia, autosomal dominant; Hypogonadotropic hypogonadism 3 with or without anosmia, autosomal recessive