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| Congenital hypothyroidism v0.48 | TRPC4AP |
Chris Richmond gene: TRPC4AP was added gene: TRPC4AP was added to Congenital hypothyroidism. Sources: Expert Review,Literature Mode of inheritance for gene: TRPC4AP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPC4AP were set to 32428920; 26786105 Phenotypes for gene: TRPC4AP were set to Thyroid hypoplasia Review for gene: TRPC4AP was set to AMBER Added comment: De novo TRPC4AP variant has been identified on WES in a child with thyroid dyshormonogenesis. Next, 179 patients with CHTD sequenced using a panel of target genes identifying four variants in TRPC4AP. During development, Choukair et al. showed that Trpc4ap is expressed in the brain, the thyroid bud, and the kidney of the African clawed frog (Xenopus laevis). This team showed that disabling Trpc4ap in the African clawed frog leads to thyroid hypoplasia during development. It was also shown that TRPC4AP interacted with IKBKG which activates the NF-κB signaling pathway and regulates the genes involved in the growth and survival of thyrocytes. Furthermore, the NF-kB would control the expression of NKX2-1, PAX8, TPO, NIS, and TG.18 The authors conclude that TRPC4AP would be a new candidate gene for TDs. Insufficient clinical cases for green. Candidate gene. Propose amber. Sources: Expert Review, Literature |
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| Congenital hypothyroidism v0.0 | TG |
Zornitza Stark gene: TG was added gene: TG was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TG were set to 27525530 (Nicholas et al.,2016) identify a monogenic and polygenic basis of disease.; 23164529 Phenotypes for gene: TG were set to Congenital hypothyroidism; Thyroid dyshormonogenesis 3, 274700; TDH3; low thyroglobulin, goitre |
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