Pituitary hormone deficiencyGene: PITX2
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, 12:03 p.m.
PIT2X is confirmed to be associated with the listed phenotypes in OMIM and Gene2Phenotype. It is a green gene in the IUGR and IGF abnormalities (Version 1.25).
Created: 8 Jan 2019, 1:33 p.m.
Ivone Leong: PIT2X is confirmed to be assoc
Gene: pitx2 has been classified as Green List (High Evidence).
gene: PITX2 was added gene: PITX2 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PITX2 were set to Axenfeld-Rieger syndrome, type 1 (180500); Anterior segment dysgenesis 4 (137600)