| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital hypothyroidism v0.84 | TBCE | Chirag Patel Marked gene: TBCE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.84 | TBCE | Chirag Patel Gene: tbce has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.84 | TBCE | Chirag Patel Classified gene: TBCE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.84 | TBCE | Chirag Patel Gene: tbce has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.83 | TBCE |
Chirag Patel gene: TBCE was added gene: TBCE was added to Congenital hypothyroidism. Sources: Literature Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCE were set to 39086450; 33150438; 26336027 Phenotypes for gene: TBCE were set to hypoparathyroidism-retardation-dysmorphism syndrome, MONDO:0009426 Review for gene: TBCE was set to GREEN Added comment: PMID 33150438 describes a cohort of 63 patients with HRD syndrome, 62 of whom harbor the same homozygous c.155_166del12 deletion and one with homozygous c.207_208delTA. Hypothyroidism was found in 36% of patients. PMID 26336027 reports a Moroccan child with HRD syndrome and congenital hypothyroidism with the homozygous c.155_166del12 deletion. PMID 39086450 reports a Libyan child with HRD syndrome and congenital hypothyroidism with the homozygous c.155_166del12 deletion. Sources: Literature |
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