BabyScreen+ newborn screening

Gene: MEN1

Red List (low evidence)

For review re age of onset: surveillance starts age 5, disease onset generally later.

Rated as 'strong actionability' in paediatric patients by ClinGen.

Parathyroid tumors, which cause PHPT, are the most common feature and the first clinical manifestation in 90% of individuals with MEN1 with onset typically between ages 20 and 25 years. Almost all (95-100%) individuals with MEN1 can expect to have PHPT by age 50 years. However, MEN1 affects all age groups, with a reported age range of 5 to 81 years; 17% of MEN1 tumors are diagnosed under age 21. Untreated patients with MEN1 have a decreased life expectancy with a 50% probability of death by age 50. The cause of death in 50-70% of cases is due to a malignant tumor process or sequelae of the disease, with malignancies accounting for 30% of all deaths.

Created: 5 Oct 2022, 11:55 p.m. | Last Modified: 29 Dec 2022, 9:05 a.m.

Panel Version: 0.1746

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Multiple endocrine neoplasia 1, MIM#131100

Green List (high evidence)

Gene-disease association: strong

Severity: moderate-severe

Age of onset: from 5 years, 50% penetrance by age 20 years.

Treatment: Surveillance recommended from age 5 years

Created: 29 Sep 2022, 10:15 p.m. | Last Modified: 29 Sep 2022, 10:15 p.m.

Panel Version: 0.270

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Multiple endocrine neoplasia 1 (MEN1)