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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. PROKR2
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: PROKR2

Green List (high evidence)
PROKR2 (prokineticin receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000101292
EnsemblGeneIds (GRCh37): ENSG00000101292
OMIM: 607123, Gene2Phenotype
PROKR2 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200

Publications

Created: 17 Apr 2020, 7:51 a.m.
Last Modified: 17 Apr 2020, 7:51 a.m.
Panel version: Imported from Disorders of Sex Differentiation panel version 0.14

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Loss of function - transfected HEK293 cells showed a reduction in signalling and maximal responses (PMID:18826963).

Dominant negative - coexpression of a mutant missense with wildtype protein resulted in reduced signalling compared to wildtype alone (PMID:29161432).

While OMIM refers to this as AD disease, hom and chet patients are regularly reported
Het. patients have been reported as asymptomatic carriers (OMIM)
Created: 17 Apr 2020, 6:30 a.m. | Last Modified: 17 Apr 2020, 6:30 a.m.
Panel Version: 0.2305

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hypogonadotropic hypogonadism 3 with or without anosmia 244200

Publications

Mode of pathogenicity
Other

Created: 17 Apr 2020, 6:30 a.m.
Last Modified: 17 Apr 2020, 6:30 a.m.
Panel version: Imported from Mendeliome panel version 0.2305

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200
OMIM
607123
Clinvar variants
Variants in PROKR2
Penetrance
None
Panels with this gene

History Filter Activity

11 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: prokr2 has been classified as Green List (High Evidence).

11 Dec 2020, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: PROKR2 were changed from to Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200

11 Dec 2020, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: PROKR2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Jun 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: PROKR2 was added gene: PROKR2 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PROKR2 was set to