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| Congenital hypothyroidism v0.102 | NNT |
Chirag Patel changed review comment from: PMID 34545694 describes 3 unrelated families with 3 heterozygous missense NNT variants that produce permanent congenital hypothyroidism due to thyroid dysgenesis. (p.Ala271Ser, p.Arg693His, p.Val861Met). There is no segregation information and the p.Arg693His variant is common in gnomAD. Functional assays (western blot, measurement of NADPH/NADPtotal and H2O2 generation, cell proliferation, and wounding healing assay) showed damaging effect of the NNT variants on stability and catalytic activity of proteins and redox balance of cells, which might lead to the abnormal development of thyroid gland. Sources: Literature; to: PMID 34545694 describes 3 unrelated families with 3 heterozygous missense NNT variants that produce permanent congenital hypothyroidism due to thyroid agenesis. (p.Ala271Ser, p.Arg693His, p.Val861Met). There is no segregation information and the p.Arg693His variant is common in gnomAD. Functional assays (western blot, measurement of NADPH/NADPtotal and H2O2 generation, cell proliferation, and wounding healing assay) showed damaging effect of the NNT variants on stability and catalytic activity of proteins and redox balance of cells, which might lead to the abnormal development of thyroid gland. Sources: Literature |
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| Congenital hypothyroidism v0.102 | NNT | Chirag Patel Marked gene: NNT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.102 | NNT | Chirag Patel Gene: nnt has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.102 | NNT |
Chirag Patel gene: NNT was added gene: NNT was added to Congenital hypothyroidism. Sources: Literature Mode of inheritance for gene: NNT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NNT were set to 34545694 Phenotypes for gene: NNT were set to Congenital hypothyroidism, MONDO:0018612 Review for gene: NNT was set to RED Added comment: PMID 34545694 describes 3 unrelated families with 3 heterozygous missense NNT variants that produce permanent congenital hypothyroidism due to thyroid dysgenesis. (p.Ala271Ser, p.Arg693His, p.Val861Met). There is no segregation information and the p.Arg693His variant is common in gnomAD. Functional assays (western blot, measurement of NADPH/NADPtotal and H2O2 generation, cell proliferation, and wounding healing assay) showed damaging effect of the NNT variants on stability and catalytic activity of proteins and redox balance of cells, which might lead to the abnormal development of thyroid gland. Sources: Literature |
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