Hypercalcaemia
Gene: MEN1EnsemblGeneIds (GRCh38): ENSG00000133895
EnsemblGeneIds (GRCh37): ENSG00000133895
OMIM: 613733, Gene2Phenotype
MEN1 is in 15 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Gene requested by endocrinologists at RMH to be on this panelCreated: 6 Feb 2020, 11:14 a.m. | Last Modified: 6 Feb 2020, 11:14 a.m.
Panel Version: 0.7
Hypercalcaemia is a prominent feature of familial hyperparathyroidism that has been caused by MEN1 in at least 5 cases.
Sources: Expert listCreated: 6 Feb 2020, 11:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Multiple endocrine neoplasia 1 MIM#131100
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Multiple endocrine neoplasia 1 MIM#131100
- OMIM
- 613733
- Clinvar variants
- Variants in MEN1
- Penetrance
- None
- Publications
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: men1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MEN1 was added gene: MEN1 was added to Hypercalcaemia. Sources: Expert list Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MEN1 were set to 31797261; 14985373 Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia 1 MIM#131100 Review for gene: MEN1 was set to GREEN