Activity
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7 actions
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| BabyScreen+ newborn screening v0.2073 | SOX3 | Zornitza Stark Marked gene: SOX3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2073 | SOX3 | Zornitza Stark Gene: sox3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2073 | SOX3 | Zornitza Stark Classified gene: SOX3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2073 | SOX3 | Zornitza Stark Gene: sox3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2072 | SOX3 |
Zornitza Stark Tag for review tag was added to gene: SOX3. Tag treatable tag was added to gene: SOX3. Tag endocrine tag was added to gene: SOX3. |
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| BabyScreen+ newborn screening v0.2072 | SOX3 | Zornitza Stark reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Panhypopituitarism, X-linked MIM#312000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2063 | SOX3 |
Lilian Downie gene: SOX3 was added gene: SOX3 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SOX3 were set to PMID: 31678974, PMID: 15800844 Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked MIM#312000 Review for gene: SOX3 was set to AMBER Added comment: Amber in our mendeliome - reviewed for ID Green in pituitary disorders Xq27.1 duplication most common mechanism - inclusion might be a question of whether we can detect CNV's in this region neonatal hypoglycemia and growth hormone deficiency in addition to variable deficiencies of other pituitary hormones. Brain hypoplasia of the anterior pituitary with hypoplasia or absence of the lower half of the infundibulum Rx Growth hormone, levothyroxine, hydrocortisone Sources: Expert list |
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