Genomics England

INSR

insulin receptor

Panel	Mode of inheritance	Details
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Green in Congenital hyperinsulinism R-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 anomalies R-numbers: R21, R412 Signed-off version 4.0	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 Monogenic diabetes 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
Green in Neonatal diabetes R-numbers: R143 Signed-off version 4.6	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
Green in Severe insulin resistance and lipodystrophy syndromes R-numbers: R158 Signed-off version 4.56	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Diabetes mellitus, insulin-resistant, with acanthosis nigricans, OMIM:610549