| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pituitary hormone deficiency v0.9 | TBL1X | Zornitza Stark Marked gene: TBL1X as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.9 | TBL1X | Zornitza Stark Gene: tbl1x has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.9 | TBL1X | Zornitza Stark Classified gene: TBL1X as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.9 | TBL1X | Zornitza Stark Gene: tbl1x has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.8 | TBL1X | Zornitza Stark reviewed gene: TBL1X: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.8 | TBL1X |
Elena Savva gene: TBL1X was added gene: TBL1X was added to Pituitary hormone deficiency. Sources: Literature 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: PMID: 27603907 - mostly males but also a female diagnosed with central hypothyroidism. 6 families reported (5/6 missense, 1/6 splice). Supported by functional studies ->LOF All mutations were located in the highly conserved WD40-repeat domains. Sources: Literature |
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