Pituitary hormone deficiencyGene: POU1F1
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Jan 2019, noon
POU1F1 is confirmed to be associated with combined pituitary hormone deficiency 1 in OMIM and Gene2Phenotype. POU1F1 is a green gene in the Congenital hypothyroidism panel (Version 1.4). There are >3 reported cases of unrelated patients with combined pituitary hormone deficiency with variants in POU1F1 listed in OMIM.
Created: 7 Dec 2018, 11:04 a.m.
Ivone Leong: POU1F1 is confirmed to be asso
Gene: pou1f1 has been classified as Green List (High Evidence).
gene: POU1F1 was added gene: POU1F1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: POU1F1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, combined, 1 (613038)