ABCC8

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

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red ABCC8 in Ketotic hypoglycaemia Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.9	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 2.58 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 3.169 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 5.557 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 1.184	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