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BabyScreen+ newborn screening

Gene: MEN1

Amber List (moderate evidence)

MEN1 (menin 1)
EnsemblGeneIds (GRCh38): ENSG00000133895
EnsemblGeneIds (GRCh37): ENSG00000133895
OMIM: 613733, Gene2Phenotype
MEN1 is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

David Amor (Murdoch Children's Research Institute)

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)

History Filter Activity

17 Jan 2023, Gel status: 2

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: MEN1.

29 Dec 2022, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: MEN1.

29 Dec 2022, Gel status: 2

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: MEN1. Tag cancer tag was added to gene: MEN1.

26 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: men1 has been classified as Amber List (Moderate Evidence).

26 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: men1 has been classified as Red List (Low Evidence).

26 Oct 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: MEN1.

5 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: men1 has been classified as Green List (High Evidence).

5 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MEN1 were changed from Multiple endocrine neoplasia I to Multiple endocrine neoplasia 1, MIM#131100

5 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: MEN1.

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MEN1 was added gene: MEN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia I