Pituitary hormone deficiencyGene: BMP4
BMP4 is confirmed to be associated with the listed phenotypes in OMIM and Gene2Phenotypes; however, there is only one reported case of a patient with pituitary hormone deficiency with a missense variant in the BMP4 gene. In silico prediction programs suggested that it is pathogenic; however, there were no functional studies performed.
Created: 10 Dec 2018, 3:10 p.m.
Ivone Leong: BMP4 is confirmed to be associ
Gene: bmp4 has been classified as Red List (Low Evidence).
Publications for gene: BMP4 were set to
gene: BMP4 was added gene: BMP4 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BMP4 were set to Microphthalmia, syndromic 6 (607932)