Hypogonadotropic hypogonadism idiopathic

Gene: PROP1

Red List (low evidence)

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

2 reviews

Simon Thomas (Wessex Regional Genetics Laboratory)

Red List (low evidence)

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Combined Pituitary Hormone deficiency (OMIM 262600)
OMIM
601538
Clinvar variants
Variants in PROP1
Penetrance
None
Panels with this gene

History Filter Activity

22 Mar 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source Wessex and West Midlands GLH was added to PROP1.

15 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Combined Pituitary Hormone deficiency (OMIM 262600) for gene: PROP1

15 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: PROP1 was added gene: PROP1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal