Differences of Sex Development
Gene: PROP1

PROP1 (PROP paired-like homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000175325
EnsemblGeneIds (GRCh37): ENSG00000175325
OMIM: 601538, Gene2Phenotype
PROP1 is in 12 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Hypogonadism is a feature of the associated phenotype (OMIM)

PMID: 15941866: 3 brothers from a consanguineous Tunisian family who presented with IHH initially.

PMID: 11549703: 8 families reported. All patients had complete hypogonadotrophic hypogonadism.

Green in Hypogonadotropic hypogonadism (PanelApp UK)
Created: 13 Jul 2020, 4:35 a.m. | Last Modified: 13 Jul 2020, 4:35 a.m.

Panel Version: 0.50

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pituitary hormone deficiency, combined, 2 (MIM#262600)

Publications

Created: 13 Jul 2020, 4:35 a.m.
Last Modified: 13 Jul 2020, 4:35 a.m.
Panel version: 0.50

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Pituitary hormone deficiency, combined, 2 (MIM#262600)

OMIM

601538

Clinvar variants

Variants in PROP1

Penetrance

None

Publications

Panels with this gene