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| BabyScreen+ newborn screening v1.114 | TBL1X | Tommy Li Added phenotypes Hypothyroidism, congenital, nongoitrous, 8 MIM#301033 for gene: TBL1X | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2065 | TBL1X | Zornitza Stark Marked gene: TBL1X as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2065 | TBL1X | Zornitza Stark Gene: tbl1x has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2065 | TBL1X | Zornitza Stark Classified gene: TBL1X as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2065 | TBL1X | Zornitza Stark Gene: tbl1x has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2064 | TBL1X |
Zornitza Stark Tag treatable tag was added to gene: TBL1X. Tag endocrine tag was added to gene: TBL1X. |
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| BabyScreen+ newborn screening v0.2063 | TBL1X |
Lilian Downie gene: TBL1X was added gene: TBL1X was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: TBL1X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TBL1X were set to PMID: 27603907 Phenotypes for gene: TBL1X were set to Hypothyroidism, congenital, nongoitrous, 8 MIM#301033 Review for gene: TBL1X was set to GREEN Added comment: Small thyroid gland Detected on newborn screening Can affect carrier females but more mildly Association with deafness Rx thyroxine Sources: Expert list |
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