Congenital hypothyroidism
Gene: PROP1EnsemblGeneIds (GRCh38): ENSG00000175325
EnsemblGeneIds (GRCh37): ENSG00000175325
OMIM: 601538, Gene2Phenotype
PROP1 is in 12 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Genomics England PanelApp
- Expert Review Green
- Phenotypes
-
- Hypoplastic or normal anterior pituitary although there have been reports of an enlarged anterior pituitary at initial scanning in childhood with spontaneous involution over time
- GH, TSH, LH, FSH, PRL deficiency with variable age of onset, evolving ACTH deficiency
- Commonest cause of combined pituitary hormone deficit without extra pituitary manifestations
- Pituitary hormone deficiency, combined, 2, 262600
- OMIM
- 601538
- Clinvar variants
- Variants in PROP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PROP1 was added gene: PROP1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PROP1 were set to 15126542; 16984240; 9768691; 15472175; 26416826 (2015 review); 23652424 Phenotypes for gene: PROP1 were set to Hypoplastic or normal anterior pituitary although there have been reports of an enlarged anterior pituitary at initial scanning in childhood with spontaneous involution over time; GH, TSH, LH, FSH, PRL deficiency with variable age of onset, evolving ACTH deficiency; Commonest cause of combined pituitary hormone deficit without extra pituitary manifestations; Pituitary hormone deficiency, combined, 2, 262600