INSR

insulin receptor
OMIM: 147670
PanelMode of inheritanceDetails
4 panels
R-numbers: R144
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Leprechaunism, 246200, hyperinsulinemic hypoglycaemia, Autosomal dominant postprandial hypoglycaemia
R-numbers: R143
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
neonatal diabetes, Donohue syndrome, 246200
R-numbers: R21
Signed-off version 1.92
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
R-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