ABCC8

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

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green ABCC8 in Hyperinsulinism Level 2: Endocrine disorders Version 1.16	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diabetes mellitus, noninsulin-dependent MIM#125853 Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857 Diabetes mellitus, transient neonatal 2 MIM#610374 Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450 Hypoglycemia of infancy, leucine-sensitive MIM#240800
Green ABCC8 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diabetes mellitus, noninsulin-dependent MIM#125853 Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857 Diabetes mellitus, transient neonatal 2 MIM#610374 Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450 Hypoglycemia of infancy, leucine-sensitive MIM#240800
Green ABCC8 in Maturity-onset Diabetes of the Young Level 2: Endocrine disorders Version 1.21	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Diabetes mellitus, permanent neonatal, 6 Hyperinsulinemic hypoglycemia, familial, 1, 256450 Transient Neonatal Diabetes, Dominant Hypoglycemia of infancy, leucine-sensitive, 240800 Permanent Neonatal Diabetes Mellitus (recessive) Diabetes mellitus, transient neonatal 2, 610374 Diabetes mellitus, noninsulin-dependent, 125853 Permanent Neonatal Diabetes Mellitus
Green ABCC8 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.134 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes permanent neonatal diabetes mellitus MONDO:0100164 transient neonatal diabetes mellitus MONDO:0020525
Green ABCC8 in Pulmonary Arterial Hypertension Level 2: Cardiovascular disorders Version 1.39	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Diabetes mellitus Hypoglycaemia Pulmonary arterial hypertension
Green ABCC8 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Green ABCC8 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hyperinsulinemic hypoglycemia, familial
Red ABCC8 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Diabetes mellitus, permanent neonatal 3, with or without neurologic features, MIM# 618857
Green ABCC8 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Green ABCC8 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Hyperinsulinemic hypoglycemia, familial, MIM#256450 Tags treatable endocrine
Green ABCC8 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Diabetes mellitus, permanent neonatal, 6 Hyperinsulinemic hypoglycemia, familial, 1, 256450 DIABETES MELLITUS, NONINSULIN-DEPENDENT transient neonatal diabetes (Dominant) Transient Neonatal Diabetes, Dominant Diabetes mellitus, transient neonatal 2, 610374 Permanent Neonatal Diabetes Mellitus Hypoglycemia of infancy, leucine-sensitive, 240800 Permanent Neonatal Diabetes Mellitus (recessive) Diabetes mellitus, noninsulin-dependent, 125853 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
Green ABCC8 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)