| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pituitary hormone deficiency v0.91 | RAX | Chirag Patel Marked gene: RAX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.91 | RAX | Chirag Patel Gene: rax has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.91 | RAX | Chirag Patel Classified gene: RAX as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.91 | RAX | Chirag Patel Gene: rax has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.90 | RAX |
Chirag Patel gene: RAX was added gene: RAX was added to Pituitary hormone deficiency. Sources: Literature Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAX were set to 30811539, 40321348 Phenotypes for gene: RAX were set to Microphthalmia, syndromic 16, MIM#611038 Review for gene: RAX was set to AMBER Added comment: Established association with bilateral microphthalmia or anophthalmia. 2 cases reported with congenital hypopituitarism. RAX is a paired-type homeoprotein that plays a critical role in eye and forebrain development of vertebrate species. RAX knockout mice have anophthalmia, cleft palate, and an abnormal hypothalamus and display perinatal lethality Sources: Literature |
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