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| Genomic newborn screening: ICoNS v0.11 | ABCC8 | Zornitza Stark Marked gene: ABCC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.11 | ABCC8 | Zornitza Stark Gene: abcc8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.11 | ABCC8 | Zornitza Stark Phenotypes for gene: ABCC8 were changed from Diabetes mellitus, noninsulin-dependent MIM#125853 Diabetes mellitus, permanent neonatal 3 MIM# 618857 AD, AR Diabetes mellitus, transient neonatal 2 MIM#610374 Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450 AD, AR Hypoglycemia of infancy, leucine-sensitive MIM#240800 AD Maturity-onset diabetes of the young, type 12 MIM#621196 AD to Diabetes mellitus, permanent neonatal 3 MIM# 618857 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.10 | ABCC8 | Zornitza Stark Classified gene: ABCC8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.10 | ABCC8 | Zornitza Stark Gene: abcc8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.9 | ABCC8 | Zornitza Stark reviewed gene: ABCC8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, permanent neonatal 3 MIM# 618857; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.9 | ABCC8 |
Lilian Downie gene: ABCC8 was added gene: ABCC8 was added to Genomic newborn screening: ICoNS. Sources: Expert list Mode of inheritance for gene: ABCC8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ABCC8 were set to PMID: 20301620; 32027066; 20922570; 16885549 Phenotypes for gene: ABCC8 were set to Diabetes mellitus, noninsulin-dependent MIM#125853 Diabetes mellitus, permanent neonatal 3 MIM# 618857 AD, AR Diabetes mellitus, transient neonatal 2 MIM#610374 Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450 AD, AR Hypoglycemia of infancy, leucine-sensitive MIM#240800 AD Maturity-onset diabetes of the young, type 12 MIM#621196 AD Review for gene: ABCC8 was set to GREEN Added comment: Gene-disease association: Curated by ClinGen: definitive for monogenic diabetes Moderate for pulmonary hypertension. LOF heterozygous variants cause hyperinsulinism and neonatal hypoglycemia. requires a paternal pathogenic variant and a somatic second hit on the maternal allele. There is no phenotype for an isolated maternal pathogenic variant. GoF missense variants cause neonatal diabetes mellitus: Clinical manifestations at diagnosis include intrauterine growth restriction (IUGR; a reflection of insulin deficiency in utero), hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and poor weight gain.: KATP channel unable to close in response to ATP, impairing insulin secretion Non-molecular confirmatory testing: yes For hyperinsulinaemic hypoglycaemia: glucose, insulin, free fatty acid levels For neonatal diabetes: glucose tolerance test, hemoglobin A1C, insulin level, glucose level NB Ashkenazi founder variants: NP_000343.2:p.Phe1387del or NM_000352.6:c.3989-9G>A. Finnish founder variants NP_000343.2:p.Val187Asp or NP_000343.2:p.Glu1506Lys. Treatment: as per rx-genes For hyperinsulinaemic hypoglycaemia: Diazoxide, somatostatin analogs, nifedipine, glucagon, IGF-1, glucocorticoids, growth hormone, pancreatic resection, mTOR inhibitors, GLP-1 receptor antagonists, sirolimus For neonatal diabetes: Insulin, glibenclamide (Sulfonylurea), oral pancreatic enzymes, Not included by GUARDIAN ?reason ?variable phenotypes, some are adult onset, would need to make variant level decisions on reporting Variable expression - variants can be inherited and cause T2DM in a parent Not included in newborn screening currently Sources: Expert list |
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