Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes CURRARINO SYNDROME 176450 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes CURRARINO SYNDROME |
Green in Neonatal diabetesR-numbers: R143 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neonatal Diabetes Mellitus, MONDO:0016391, Permanent neonatal diabetes mellitus, MONDO:0100164, Currarino syndrome, OMIM:176450 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Currarino syndrome 176450 |