Hypogonadotropic hypogonadism (GMS)
Gene: PROKR2EnsemblGeneIds (GRCh38): ENSG00000101292
EnsemblGeneIds (GRCh37): ENSG00000101292
OMIM: 607123, Gene2Phenotype
PROKR2 is in 7 panels
2 reviews
Simon Thomas (Wessex Regional Genetics Laboratory)
Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- South West GLH
- Phenotypes
-
- Hypogonadotropic hypogonadism 3 with or without anosmia, OMIM:244200
- OMIM
- 607123
- Clinvar variants
- Variants in PROKR2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ida Ertmanska (Genomics England Curator)Phenotypes for gene: PROKR2 were changed from Hypogonadotropic hypogonadism type 3 (OMIM 244200) to Hypogonadotropic hypogonadism 3 with or without anosmia, OMIM:244200
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: PROKR2 were set to
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: prokr2 has been classified as Green List (High Evidence).
Added New Source
Ivone Leong (Genomics England Curator)Source Wessex and West Midlands GLH was added to PROKR2.
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Hypogonadotropic hypogonadism type 3 (OMIM 244200) for gene: PROKR2
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: PROKR2 was added gene: PROKR2 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: PROKR2 was set to BIALLELIC, autosomal or pseudoautosomal