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| Congenital hypothyroidism v0.53 | NTN1 | Zornitza Stark Classified gene: NTN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.53 | NTN1 | Zornitza Stark Gene: ntn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.48 | NTN1 |
Chris Richmond gene: NTN1 was added gene: NTN1 was added to Congenital hypothyroidism. Sources: Literature Mode of inheritance for gene: NTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NTN1 were set to 35774517; 25353184 Phenotypes for gene: NTN1 were set to Thyroid ectopia with hypothyroidism Review for gene: NTN1 was set to AMBER Added comment: Only 1x family (de novo NTN1 deletion) with animal model. Propose Amber. NTN1 codes for Netrin 1, which is involved in regulating various developmental processes, such as angiogenesis, the migration of non-neuronal cells, and epithelial morphogenesis. Known to be associated with congenital mirror movts (OMIM 618264) A patient with a congenital heart defect and TD (ectopia) has been described with a de novo deletion of NTN1. Embryos of the zebrafish with the ntn1a gene disabled have abnormal morphogenesis of the thyroid, probablydue to abnormal vascularisation not enabling the thyroid progenitor cells Sources: Literature |
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