Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in Congenital hypothyroidismR-numbers: R145 Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Acrodysostosis, mild hormone resistance (TSH, PTH, GPCR-cAMP signalling hormones, Acrodysostosis 1, with or without hormone resistance, 101800 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ACRODYSOSTOSIS 101800 |
Green in Fetal anomaliesR-numbers: R21 Signed-off version 1.92 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ACRODYSOSTOSIS |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 1.4 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes PPNAD1, CARNEY COMPLEX, TYPE 1, Carney complex, CNC1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 |
R-numbers: R160 Signed-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Pigmented nodular adrenocortical disease, primary, 1, 610489 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 2.2 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Acrodysostosis 1, with or without hormone resistance 101800, Myxoma, intracardiac 255960, Pigmented nodular adrenocortical disease, primary, 1 610489 |
R-numbers: R359 Signed-off version 2.5 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Familial Primary Pigmented Nodular Adrenocortical disease, Carney Complex |