Pituitary hormone deficiencyGene: PAX6
PAX6 is confirmed to be associated with the listed phenotypes in OMIM and Gene2Phenotype; however, there is only one reported case of a patient with congenital hypopituitarism who has a variant in PAX6.
Created: 10 Dec 2018, 5:01 p.m.
Ivone Leong: PAX6 is confirmed to be associ
Publications for gene: PAX6 were set to
gene: PAX6 was added gene: PAX6 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX6 were set to Aniridia (106210)