ABCC8

ATP binding cassette subfamily C member 8
OMIM: 600509, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Red ABCC8 in Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.8

review Unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 1, 256450
  • Hypoglycemia of infancy, leucine-sensitive, 240800
  • Diabetes mellitus, transient neonatal 2, 610374
  • Diabetes mellitus, noninsulin-dependent, 125853
  • Diabetes mellitus, noninsulin-dependent, 125854
No list ABCC8 in Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.11

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 1, 256450
  • Hypoglycemia of infancy, leucine-sensitive, 240800
  • Diabetes mellitus, transient neonatal 2, 610374
  • Diabetes mellitus, noninsulin-dependent, 125853
  • Diabetes mellitus, permanent neonatal, 6
  • Permanent Neonatal Diabetes Mellitus
  • Transient Neonatal Diabetes, Dominant
  • Monogenic Diabetes
  • Neonatal Diabetes
Tags
  • curated_removed
Green ABCC8 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 1, 256450
  • Hypoglycemia of infancy, leucine-sensitive, 240800
  • Diabetes mellitus, transient neonatal 2, 610374
  • Diabetes mellitus, noninsulin-dependent, 125853
  • Diabetes mellitus, permanent neonatal, 6
  • Permanent Neonatal Diabetes Mellitus
  • Transient Neonatal Diabetes, Dominant
  • Permanent neonatal diabetes mellitus
  • transient neonatal diabetes (Dominant)
  • DIABETES MELLITUS, NONINSULIN-DEPENDENT
Green ABCC8 in Neonatal diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

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
  • Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450
  • Hypoglycemia of infancy, leucine-sensitive, OMIM:240800
  • Diabetes mellitus, transient neonatal 2, OMIM:610374
  • Diabetes mellitus, noninsulin-dependent, OMIM:125853
  • Diabetes mellitus, permanent neonatal 3, with or without neurologic features, OMIM:618857
Green ABCC8 in Congenital hyperinsulinism

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Hyperinsulinism, Dominant/Recessive
  • Hyperinsulinemic hypoglycemia, familial, 1, 256450
Green ABCC8 in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Permanent Neonatal Diabetes Mellitus
  • Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6
  • Permanent Neonatal Diabetes Mellitus (recessive)
  • Transient Neonatal Diabetes, Dominant
Green ABCC8 in Monogenic diabetes


Version 2.54
Latest signed off version: v2.2 (25 Feb 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Transient Neonatal Diabetes Mellitus, MONDO:0020525 (dominant)
  • Diabetes mellitus, noninsulin-dependent, OMIM:125853
  • Diabetes mellitus, transient neonatal 2, OMIM:610374
  • Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450
  • Hypoglycemia of infancy, leucine-sensitive, OMIM:240800
  • Permanent Neonatal Diabetes Mellitus, MONDO:0100164(recessive)
Amber ABCC8 in Pulmonary arterial hypertension

Level 3: Pulmonary heart disease
Level 2: Cardiovascular disorders
Version 3.5
Latest signed off version: v3.0 (30 Nov 2022)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Diabetes mellitus
  • Hypoglycaemia
  • Pulmonary arterial hypertension
Tags
  • for-review
  • to_be_confirmed_NHSE
Red ABCC8 in Fetal anomalies


Version 3.136
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial 256450
Red ABCC8 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.477
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review Not set
    Sources
    • Victorian Clinical Genetics Services
    Green ABCC8 in Severe Paediatric Disorders


    Version 1.182

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Diabetes mellitus, transient neonatal 2, 610374
    • Hypoglycemia of infancy, leucine-sensitive, 240800
    • Diabetes mellitus, permanent neonatal, 606176
    • Hyperinsulinemic hypoglycemia, familial, 1, 256450
    • Diabetes mellitus, noninsulin-dependent, 125853
    Green ABCC8 in Neonatal diabetes - small panel


    Version 1.3
    Latest signed off version: v1.2 (26 Sep 2023)

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