Pituitary hormone deficiency

Gene: RAX

I don't know

Comment on list classification: There is not enough evidence for this gene to be rated GREEN on this panel at the moment..

Created: 22 Sep 2022, 11:03 a.m. | Last Modified: 22 Sep 2022, 11:03 a.m.

Panel Version: 2.90

Associated with Microphthalmia, isolated 3 (OMIM:611038) in OMIM and as definitive Gen2Phen gene. PMID: 30811539 reports a case with a homozygous terminating RAX variant with Anophthalmia, Hypopituitarism, Diabetes Insipidus and Cleft Palate. The authors review previously published RAX variants (table 2) and conclude that their case represents a severve phenotype, which matches the features seen in a Rax knockout mouse, which has loss of ventral
forebrain structures, pituitary, and basosphenoid bone and palate and a misplaced anterior pituitary gland along the roof of the oral cavity.

Created: 22 Sep 2022, 11:02 a.m. | Last Modified: 22 Sep 2022, 11:02 a.m.

Panel Version: 2.89

Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Brachet C, Kozhemyakina EA, Boros E, Heinrichs C, Balikova I, Soblet J, Smits G, Vilain C, Mathers PH.J Clin Endocrinol Metab. 2019 Jul 1;104(7):2925-2930. doi: 10.1210/jc.2018-02316.PMID:30811539

Created: 14 Sep 2022, 4:44 p.m. | Last Modified: 14 Sep 2022, 4:44 p.m.

Panel Version: 2.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ANOPHTHALMIA, CLAEFT PALATE, DIABETES INSIPIDUS, HYPOPITUITARISM

Publications

• 30811539