Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Monogenic diabetesR-numbers: R141 Signed-off version 2.60 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Maturity-onset diabetes of the young 6, OMIM:606394, {Type 2 diabetes mellitus, susceptibility to}, OMIM:125853 |
Green in Neonatal diabetesR-numbers: R143 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, MONDO:0012192, Maturity-onset diabetes of the young 6, OMIM:606394, Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus |
Green in Retinal disordersR-numbers: R32 Signed-off version 7.8 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Retinitis pigmentosa, Retinopathy, Permanent neonatal diabetes |