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| BabyScreen+ newborn screening v1.114 | OTX2 |
Tommy Li Added phenotypes Pituitary hormone deficiency, combined, 6, MIM# 613986 for gene: OTX2 Publications for gene OTX2 were updated from 18728160; 35320640; 33950863 to 18728160; 33950863; 35320640 |
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| BabyScreen+ newborn screening v0.2115 | OTX2 | Zornitza Stark Marked gene: OTX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2115 | OTX2 | Zornitza Stark Gene: otx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2115 | OTX2 | Zornitza Stark Classified gene: OTX2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2115 | OTX2 | Zornitza Stark Gene: otx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2114 | OTX2 |
Zornitza Stark gene: OTX2 was added gene: OTX2 was added to Baby Screen+ newborn screening. Sources: Expert list treatable, endocrine tags were added to gene: OTX2. Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OTX2 were set to 18728160; 35320640; 33950863 Phenotypes for gene: OTX2 were set to Pituitary hormone deficiency, combined, 6, MIM# 613986 Review for gene: OTX2 was set to GREEN Added comment: Variants in this gene have been associated with pituitary hormone deficiency with or without microphthalmia, including of TSH. Congenital onset. Microphthalmia would present clinically in the newborn period. Infants with TSH deficiency should be detected by standard NBS. Treatment: thyroxine and other hormone replacements. Sources: Expert list |
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