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Prepair 500+

Gene: POU1F1

Green List (high evidence)

POU1F1 (POU class 1 homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000064835
EnsemblGeneIds (GRCh37): ENSG00000064835
OMIM: 173110, Gene2Phenotype
POU1F1 is in 12 panels

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone and one or more of the other 5 anterior pituitary hormones. Some patients exhibit only GH deficiency, although approximately 50% of isolated GH deficiency progresses to CPHD. In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen.

Established gene-disease association. Congenital onset.
Created: 5 Feb 2025, 11:10 p.m. | Last Modified: 5 Feb 2025, 11:10 p.m.
Panel Version: 1.1456

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pituitary hormone deficiency, combined or isolated, 1, MIM#613038

Publications

Details

History Filter Activity

3 Nov 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

gene: POU1F1 was added gene: POU1F1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, combined, 1, 613038 (3)