Hypogonadotropic hypogonadism

Gene: PROP1

Green List (high evidence)

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

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 May 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

PROP1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Illumina TruGenome Clinical Sequencing Services

17 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

PROP1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Emory Genetics Laboratory

17 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PROP1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: UKGTN

17 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PROP1 was created by sleigh