INSR

insulin receptor
OMIM: 147670, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green INSR in Hyperinsulinism


Level 2: Endocrine disorders
Version 1.30

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968

Green INSR in Mendeliome


Version 1.2374

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968
  • Leprechaunism, MIM# 246200
  • Rabson-Mendenhall syndrome, MIM# 262190

Red INSR in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Leprechaunism, MIM# 246200
  • Rabson-Mendenhall syndrome, MIM# 262190

Green INSR in Monogenic Diabetes


Level 2: Endocrine disorders
Version 0.137

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • insulin-resistance syndrome type A MONDO:0012520
    • Rabson-Mendenhall syndrome MONDO:0009874
    • Donohue syndrome MONDO:0009517

    Green INSR in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leprechaunism, 246200 (3)

    Green INSR in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Leprechaunism

    Green INSR in Growth failure


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Leprechaunism, MIM# 246200
    • Rabson-Mendenhall syndrome, MIM# 262190

    Green INSR in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Leprechaunism, MIM# 246200

    Green INSR in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leprechaunism, 246200 (3)

    Red INSR in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968
    • Leprechaunism, MIM# 246200
    • Rabson-Mendenhall syndrome, MIM# 262190

    Green INSR in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
    • Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans
    • OMIM 610549
    • Rabson-Mendenhall syndrome, 262190
    • Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities
    • Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans
    • Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549
    • Diabetes mellitus, insulin-resistant, with acanthosis nigricans
    • Hyperinsulinemic hypoglycemia, familial, 5, 609968
    • Leprechaunism, 246200
    • DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS