ABCC8

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

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red ABCC8 in Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.5

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 1.8

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 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 1.63

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 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 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
  • 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 2.5
Latest signed off version: v2.3 (25 Feb 2020)

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 1.63

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

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • 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 2.16
Latest signed off version: v2.2 (2 Mar 2020)

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

Red ABCC8 in Fetal anomalies


Version 1.749
Latest signed off version: v1.92 (21 Aug 2020)

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

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1396
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Victorian Clinical Genetics Services

    Green ABCC8 in Severe Paediatric Disorders


    Version 1.84

    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