ABCC8

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

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red ABCC8 in Ketotic hypoglycaemia Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.10	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 1.12	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 1.68	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 2: Endocrinology Version 5.17 Latest signed off version: v5.0 (7 Aug 2024)	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 2: Endocrinology Version 3.7 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 1.68	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 Level 2: Endocrinology Version 3.10 Latest signed off version: v3.0 (30 Apr 2025)	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)
Green ABCC8 in Pulmonary arterial hypertension Level 2: Respiratory Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Diabetes mellitus Hypoglycaemia Pulmonary arterial hypertension
Red ABCC8 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	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 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Not set	Sources Victorian Clinical Genetics Services
Green ABCC8 in Neonatal diabetes - small panel Level 2: Endocrinology Version 1.6 Latest signed off version: v1.2 (26 Sep 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Diabetes mellitus, permanent neonatal 3, OMIM:618857 Diabetes mellitus, transient neonatal 2, OMIM:610374 diabetes mellitus, permanent neonatal 3, MONDO:0030088 diabetes mellitus, transient neonatal, 2, MONDO:0012480