BabyScreen+ newborn screening

Gene: ABCC8

Green List (high evidence)

Note familial hyperinsulinaemic hypoglycaemia requires second, low-chance event therefore mostly included for association with neonatal DM. This should be apparent in the newborn period.

Created: 29 Dec 2022, 6:58 a.m. | Last Modified: 29 Dec 2022, 6:58 a.m.

Panel Version: 0.1721

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diabetes mellitus, permanent neonatal 3, with or without neurologic features, MIM 618857

Green List (high evidence)

Gene-disease association: strong. Note sporadic cases of Familial hyperinsulinemic hypoglycemiawith focal adenomatous hyperplasia due to paternally inherited variants focal loss of maternal allele.

ABCC8 associated permanent neonatal diabetes mellitus typically due to GoF missense variants. Fathers are at increased risk of T2DM also.

Severity: severe

Age of onset: congenital

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

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, oral pancreatic enzymes

Created: 29 Dec 2022, 1:55 a.m. | Last Modified: 29 Dec 2022, 1:55 a.m.

Panel Version: 0.1710

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
MIM 256450 Hyperinsulinemic hypoglycemia, familial, 1; MIM 618857 Diabetes mellitus, permanent neonatal 3, with or without neurologic features