Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Congenital hypothyroidismR-numbers: R145 Signed-off version 2.2 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Congenital hypothyroidism, Hypothyroidism, Congenital, Nongoitrous, 1, 275200, Hypothyroidism, congenital, nongoitrous, 1 275200, TSH resistance, thyroid hypoplasia, subclinical hypothyroidism, thyroid dysgenesis, eutopic gland-in-situ, compensated hypothryoidism |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes HYPERTHYROIDISM, FAMILIAL GESTATIONAL 603373, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 275200 |
Green in HyperthyroidismR-numbers: R182 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Congenital, nonautoimmune hyperthyroidism, Hyperthyroidism, nonautoimmune, 609152 |