Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in Congenital hyperinsulinismR-numbers: R144 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Leprechaunism, 246200, hyperinsulinemic hypoglycaemia, Autosomal dominant postprandial hypoglycaemia |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes DONOHUE SYNDROME 246200, Hyperinsulinemic hypoglycemia, familial, 5 609968, Diabetes mellitus, insulin-resistant, with acanthosis nigricans 610549, Rabson-Mendenhall syndrome 262190 |
Green in Lipodystrophy - childhood onsetR-numbers: R158 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Diabetes mellitus, insulin-resistant, with acanthosis nigricans, OMIM:610549 |
Green in Monogenic diabetesR-numbers: R141 Signed-off version 2.2 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Leprechaunism, 246200, Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549, Rabson-Mendenhall syndrome, 262190, Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans, OMIM 610549, Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities, Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans, Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities, Diabetes mellitus, insulin-resistant, with acanthosis nigricans, Hyperinsulinemic hypoglycemia, familial, 5, 609968, DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS |
Green in Neonatal diabetesR-numbers: R143 Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes neonatal diabetes, Donohue syndrome, OMIM:246200, Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968, Rabson-Mendenhall syndrome, OMIM:262190 |