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Newborns main panel

Gene: PROKR2

Amber List (moderate 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: 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, 3:13 p.m.
Panel Version: 0.506
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: 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: 0.498
Created: 31 Dec 2025, 2:27 p.m.
Last Modified: 16 Mar 2026, 3:13 p.m.
Panel version: 0.499

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Hypogonadotropic hypogonadism 3 with or without anosmia, autosomal dominant
OMIM
607123
Clinvar variants
Variants in PROKR2
Penetrance
None
Panels with this gene

History Filter Activity

16 Mar 2026, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: prokr2 has been classified as Amber List (Moderate Evidence).

16 Mar 2026, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration was removed from gene: PROKR2.

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 dominant

31 Dec 2025, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: PROKR2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

31 Dec 2025, Gel status: 3

Set mode of inheritance, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene PROKR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hypogonadotropic hypogonadism 3 with or without anosmia, autosomal recessive for gene: PROKR2

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 main panel. Sources: Expert Review Green 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, autosomal dominant