Pituitary hormone deficiencyGene: GLI2
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.
GLI2 is confirmed to be associated with Holoprosencephaly 9 in OMIM and Gene2Phenotype. GLI2 is a green gene in the Holoprosencephaly panel (Version 1.6). There are >3 reported cases of unrelated patients with panhypopituitarism who have variants in GLI2.
Created: 7 Dec 2018, 4:13 p.m.
Ivone Leong: GLI2 is confirmed to be associ
Gene: gli2 has been classified as Green List (High Evidence).
Publications for gene: GLI2 were set to
gene: GLI2 was added gene: GLI2 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,UKGTN,Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLI2 were set to Culler-Jones syndrome (615849); Holoprosencephaly 9 (610829)