| Panel | Mode of inheritance | Details |
|---|---|---|
3 panels | ||
Green in Monogenic diabetesR-numbers: R141 Signed-off version 2.2 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Maturity-onset diabetes of the young 6, 606394, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6, {Diabetes mellitus, noninsulin-dependent}, 125853, Maturity-Onset Diabetes Of The Young, MODY6, Permanent neonatal diabetes and cerebellar agenesis, Maturity Onset Diabetes of the Young |
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 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Retinitis pigmentosa, Retinopathy, Permanent neonatal diabetes |