INSR

insulin receptor
OMIM: 147670, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

No list INSR in Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.7

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

Green INSR in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.30

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 1.59

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 1.11

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 Diabetes - neonatal onset

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 2.0

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • neonatal diabetes
  • Donohue syndrome, 246200

Green INSR in Congenital hyperinsulinism

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 2.0

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 1.38

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 Monogenic diabetes


Version 2.1

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
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 INSR in Fetal anomalies


Version 1.0

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 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.0

review Not set
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age

Red INSR in Growth failure in early childhood


Version 1.3

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Leprechaunism

Red INSR in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.0

review Not set
Sources
  • Victorian Clinical Genetics Services

Green INSR in DEMO Diabetes neonatal onset

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.2

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Other
  • NHS GMS
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Donohue syndrome, 246200
  • neonatal diabetes