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 4.11
Latest signed off version: v4.0 (30 Apr 2025)

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 4.4
Latest signed off version: v4.0 (30 Apr 2025)

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)