INS

insulin
OMIM: 176730, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green INS in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diabetes mellitus, insulin-dependent, 2, MIM# 125852
  • Diabetes mellitus, permanent neonatal 4, MIM# 618858
  • Maturity-onset diabetes of the young, type 10, MIM# 613370

Red INS in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Diabetes mellitus, permanent neonatal, MIM#606176

Green INS in Maturity-onset Diabetes of the Young


Level 2: Endocrine disorders
Version 1.21

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • monogenic diabetes MONDO:0015967
  • Diabetes mellitus, insulin-dependent, 2, MIM# 125852
  • Diabetes mellitus, permanent neonatal 4, MIM# 618858
  • Maturity-onset diabetes of the young, type 10, MIM# 613370

Green INS in Monogenic Diabetes


Level 2: Endocrine disorders
Version 0.134

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • diabetes mellitus, permanent neonatal 4 MONDO:0030089
    • maturity-onset diabetes of the young type 10 MONDO:0013240

    Green INS in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Diabetes mellitus, permanent neonatal MIM# 618858Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life

    Green INS in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    • Expert list
    Phenotypes
    • Diabetes mellitus, insulin-dependent, 2, MIM# 125852
    • Diabetes mellitus, permanent neonatal 4, MIM# 618858
    • Maturity-onset diabetes of the young, type 10, MIM# 613370
    Tags
    • for review
    • treatable
    • endocrine

    Green INS 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
    • Maturity Onset Diabetes of the Young (Dominant)
    • Diabetes mellitus, type 1, 125852
    • Diabetes mellitus, insulin-dependent, 2, 125852
    • Transient Neonatal Diabetes, Dominant/Recessive
    • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10
    • Maturity-onset diabetes of the young, type 10, 613370
    • Diabetes mellitus, permanent neonatal, 606176
    • Hyperproinsulinemia, familial, with or without diabetes
    • Permanent Neonatal diabetes mellitus
    • Maturity Onset Diabetes of the Young
    • MODY10