Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MARTINEZ-FRIAS SYNDROME 601346 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MARTINEZ-FRIAS SYNDROME |
R-numbers: R331 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitchell-Riley syndrome, OMIM:615710 |
Green in Monogenic diabetesR-numbers: R141 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities, Mitchell-Riley syndrome, 615710, recessive syndromic diabetes and autosomal dominant MODY |
Green in Neonatal diabetesR-numbers: R143 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitchell-Riley syndrome, OMIM:615710 (includes neonatal diabetes) |