ABCC8

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

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green ABCC8 in Hyperinsulinism Level 2: Endocrine disorders Version 1.49	1 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 1.3499	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Maturity-onset diabetes of the young, type 12, MIM# 621196 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 Pulmonary arterial hypertension, MONDO:0015924, ABCC8-related
Green ABCC8 in Maturity-onset Diabetes of the Young Level 2: Endocrine disorders Version 1.24	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Maturity-onset diabetes of the young, type 12, MIM# 621196
Green ABCC8 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.152 Component of the following Super Panels: Metabolic Disorders Superpanel	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Maturity-onset diabetes of the young, type 12, MIM# 621196 permanent neonatal diabetes mellitus MONDO:0100164 transient neonatal diabetes mellitus MONDO:0020525
Green ABCC8 in Pulmonary Arterial Hypertension Level 2: Cardiovascular disorders Version 1.45	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Pulmonary arterial hypertension, MONDO:0015924, ABCC8-related
Green ABCC8 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hyperinsulinemic hypoglycemia, familial
Red ABCC8 in Fetal anomalies Version 1.465	1 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 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857 Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450
Green ABCC8 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	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 Level 2: Screening Version 0.20	0 reviews	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 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Amber ABCC8 in Genomic newborn screening: ICoNS Level 2: Screening Version 0.16	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Diabetes mellitus, permanent neonatal 3 MIM# 618857