Hypogonadotropic hypogonadism (GMS)
Gene: PROK2EnsemblGeneIds (GRCh38): ENSG00000163421
EnsemblGeneIds (GRCh37): ENSG00000163421
OMIM: 607002, Gene2Phenotype
PROK2 is in 3 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 type 4 (OMIM 610628)
- OMIM
- 607002
- Clinvar variants
- Variants in PROK2
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: prok2 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 PROK2.
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Hypogonadotropic hypogonadism type 4 (OMIM 610628) for gene: PROK2
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: PROK2 was added gene: PROK2 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: PROK2 was set to BIALLELIC, autosomal or pseudoautosomal