Hypogonadotropic hypogonadism (GMS)
Gene: PROP1
Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.Created: 10 Nov 2023, 1:45 p.m. | Last Modified: 10 Nov 2023, 1:45 p.m.
Panel Version: 3.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pituitary hormone deficiency, combined, 2, OMIM:262600
Publications
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.Created: 1 Nov 2023, 3:02 a.m. | Last Modified: 1 Nov 2023, 3:02 a.m.
Panel Version: 3.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pituitary hormone deficiency, combined, 2 (MIM#262600)
Publications
Phenotypes for gene: PROP1 were changed from Combined Pituitary Hormone deficiency (OMIM 262600) to Pituitary hormone deficiency, combined, 2, OMIM:262600
Publications for gene: PROP1 were set to
Gene: prop1 has been classified as Amber List (Moderate Evidence).
Tag Q4_23_promote_green tag was added to gene: PROP1.
Source Wessex and West Midlands GLH was added to PROP1.
Added phenotypes Combined Pituitary Hormone deficiency (OMIM 262600) for gene: PROP1
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