TBX19

T-box 19
OMIM: 604614, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green TBX19 in Congenital adrenal hypoplasia


Level 2: Endocrinology
Version 5.4
Latest signed off version: v5.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Isolated ACTH insufficiency
  • Adrenocorticotropic hormone deficiency 201400
Green TBX19 in Pituitary hormone deficiency


Level 2: Endocrinology
Version 4.7
Latest signed off version: v4.6 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Adrenocorticotropic hormone deficiency (201400)