Hypogonadotropic hypogonadism
Gene: PROP1

PROP1 (PROP paired-like homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000175325
EnsemblGeneIds (GRCh37): ENSG00000175325
OMIM: 601538, Gene2Phenotype
PROP1 is in 11 panels

4 reviews

Richard Quinton (Newcastle University)

Green List (high evidence)

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 2/4 sources. At least 13 variants reported. Three reviewers recommend Green
Created: 13 Oct 2016, 9:26 a.m.

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Associated with hypogonadotrophic hypogonadism as well as combined pituitary hormone deficiencies.
Created: 24 May 2016, 12:18 p.m.

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory
UKGTN

Phenotypes

Pituitary hormone deficiency, combined, 2, 262600
Proportionate Short Stature/Small for Gestational Age
Combined Pituitary Hormone Deficiency, Recessive

OMIM

601538

Clinvar variants

Variants in PROP1

Penetrance

Complete

Panels with this gene

History Filter Activity

28 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

28th Oct 2016: This panel was revised after external expert review and internal discussion. For several genes that have been shown to contribute to the disorder in a digenic/polygenic manner, the decision was made to only include genes as green if biallelic variants had been reported independently from other genes. Genes with a monoallelic mechanism, that have been shown in some studies in conjunction with variants in other genes, were made red as monoallelic variants in these genes may not provide a complete diagnosis.

26 May 2016, Gel status: 4