INS

insulin
OMIM: 176730, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red INS in Genomic imprinting


Version 0.104

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Literature

No list INS in Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.8

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperproinsulinemia, familial, with or without diabetes
  • Maturity-onset diabetes of the young, type 10, 613370
  • Diabetes mellitus, permanent neonatal, 606176
  • Diabetes mellitus, type 1, 125852
  • Diabetes mellitus, insulin-dependent, 2, 125852
  • Maturity Onset Diabetes of the Young
  • Transient Neonatal Diabetes, Dominant/Recessive
  • Neonatal Diabetes
  • Monogenic Diabetes
Tags
  • curated_removed

Green INS in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.63

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperproinsulinemia, familial, with or without diabetes
  • Maturity-onset diabetes of the young, type 10, 613370
  • Diabetes mellitus, permanent neonatal, 606176
  • Diabetes mellitus, type 1, 125852
  • Diabetes mellitus, insulin-dependent, 2, 125852
  • Maturity Onset Diabetes of the Young
  • Transient Neonatal Diabetes, Dominant/Recessive
  • Permanent Neonatal diabetes mellitus
  • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10
  • MODY10

Green INS in Diabetes - neonatal onset

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 2.34
Latest signed off version: v2.2 (19 Feb 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperproinsulinemia, OMIM:616214
  • Maturity-onset diabetes of the young, type 10, 613370
  • Diabetes mellitus, insulin-dependent, 2, 125852
  • Transient Neonatal Diabetes Mellitus (disease), MONDO:0020525 (Dominant/Recessive)
  • Permanent Neonatal diabetes mellitus, MONDO:010016

Green INS in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.63

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Maturity Onset Diabetes of the Young
  • Hyperproinsulinemia, familial, with or without diabetes
  • Transient Neonatal Diabetes, Dominant/Recessive
  • Maturity Onset Diabetes of the Young (Dominant)

Green INS in Monogenic diabetes


Version 2.43
Latest signed off version: v2.2 (25 Feb 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Maturity-onset diabetes of the young, type 10, OMIM:613370
  • Diabetes mellitus, permanent neonatal 4, OMIM:618858
  • Diabetes mellitus, insulin-dependent, 2, OMIM:125852
  • Hyperproinsulinemia, OMIM:616214