INSR

insulin receptor
OMIM: 147670, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
No list INSR in Multi-organ autoimmune diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.12	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Leprechaunism, 246200 Rabson-Mendenhall syndrome, 262190 Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 Hyperinsulinemic hypoglycemia, familial, 5, 609968 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans Monogenic Diabetes Tags curated_removed
Green INSR in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Leprechaunism
Green INSR in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.68	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Diabetes mellitus, insulin-resistant, with acanthosis nigricans OMIM 610549 Leprechaunism, 246200 Rabson-Mendenhall syndrome, 262190 Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 Hyperinsulinemic hypoglycemia, familial, 5, 609968 Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans 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
Green INSR in Insulin resistance (including lipodystrophy) Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.18	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 Leprechaunism, 246200 Rabson-Mendenhall syndrome, 262190
Green INSR in Neonatal diabetes Level 2: Endocrinology Version 5.17 Latest signed off version: v5.0 (7 Aug 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Other Phenotypes neonatal diabetes Donohue syndrome, OMIM:246200, Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968 Rabson-Mendenhall syndrome, OMIM:262190
Green INSR in Congenital hyperinsulinism Level 2: Endocrinology Version 3.7 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Leprechaunism, 246200 hyperinsulinemic hypoglycaemia Autosomal dominant postprandial hypoglycaemia
Green INSR in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.68	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green UKGTN Phenotypes Diabetes mellitus, insulin-resistant, with acanthosis nigricans OMIM 610549
Green INSR in Lipodystrophy - childhood onset Level 2: Endocrinology Version 4.67 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Diabetes mellitus, insulin-resistant, with acanthosis nigricans, OMIM:610549
Green INSR in Monogenic diabetes Level 2: Endocrinology Version 3.8 Latest signed off version: v3.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans, OMIM:610549 Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968 Leprechaunism, OMIM:246200 Rabson-Mendenhall syndrome, OMIM:262190
Green INSR in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE Additional Gene List Expert Review Green Phenotypes DONOHUE SYNDROME 246200 Hyperinsulinemic hypoglycemia, familial, 5 609968 Diabetes mellitus, insulin-resistant, with acanthosis nigricans 610549 Rabson-Mendenhall syndrome 262190
No list INSR in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Proportionate Short Stature/Small for Gestational Age Tags curated_removed
Red INSR in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Not set	Sources Victorian Clinical Genetics Services
Red INSR in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Leprechaunism