Paraganglioma_phaeochromocytoma
Gene: MEN1EnsemblGeneIds (GRCh38): ENSG00000133895
EnsemblGeneIds (GRCh37): ENSG00000133895
OMIM: 613733, Gene2Phenotype
MEN1 is in 15 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Paragangliomas and phaeochromocytomas reported in condition.
Sources: Expert list, Expert ReviewCreated: 18 Sep 2024, 9:09 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Multiple endocrine neoplasia type 1, MONDO:0007540; Multiple endocrine neoplasia, type 1, MIM#131100
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Paraganglioma, MONDO:0000448
- Pheochromocytoma, MONDO:0008233
- Multiple endocrine neoplasia type 1, MONDO:0007540
- Multiple endocrine neoplasia, type 1, MIM#131100
- OMIM
- 613733
- Clinvar variants
- Variants in MEN1
- Penetrance
- None
- Panels with this gene
-
- Calcium and Phosphate disorders
- Additional findings_Adult
- Hyperinsulinism
- Incidentalome_PREGEN_DRAFT
- Pituitary Tumour
- Parathyroid Tumour
- BabyScreen+ newborn screening
- Transplant Co-Morbidity Superpanel
- Cancer Predisposition_Paediatric
- Paraganglioma_phaeochromocytoma
- Facial papules
- Incidentalome
- Additional findings_Paediatric
- Renal Tubulopathies and related disorders
- Hypercalcaemia
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: men1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: men1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: MEN1 was added gene: MEN1 was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MEN1 were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Multiple endocrine neoplasia type 1, MONDO:0007540; Multiple endocrine neoplasia, type 1, MIM#131100 Review for gene: MEN1 was set to GREEN