Pituitary hormone deficiencyGene: HESX1
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, 11:59 a.m.
HESX1 is confirmed to be associated with combined pituitary hormone deficiency 5 in OMIM and is classified as a probable gene in Gene2Phenotype. HESX1 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 HESX1.
Created: 7 Dec 2018, 11:03 a.m.
Ivone Leong: HESX1 is confirmed to be assoc
Gene: hesx1 has been classified as Green List (High Evidence).
Publications for gene: HESX1 were set to
gene: HESX1 was added gene: HESX1 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: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HESX1 were set to Growth hormone deficiency with pituitary anomalies (182230); Pituitary hormone deficiency, combined, 5 (182230)