Inherited phaeochromocytoma and paraganglioma
Gene: MEN1EnsemblGeneIds (GRCh38): ENSG00000133895
EnsemblGeneIds (GRCh37): ENSG00000133895
OMIM: 613733, Gene2Phenotype
MEN1 is in 16 panels
3 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Katie Snape (South London GMC)
Treena Cranston (Oxford)
PCC is very rarely seen in mutation carriers in association with the MEN1 phenotype, but mutations are not generally associated with isolated PCCCreated: 30 Sep 2015, 12:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MEN1, FIHP
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Multiple Endocrine Neoplasia
- Multiple endocrine neoplasia type 1 (MEN1)
- OMIM
- 613733
- Clinvar variants
- Variants in MEN1
- Penetrance
- Complete
- Panels with this gene
-
- Inherited phaeochromocytoma and paraganglioma
- Additional findings health related - children
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Parathyroid Cancer
- Familial hyperparathyroidism or hypocalciuric hypercalcaemia
- Childhood solid tumours
- Adult solid tumours for rare disease
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Endocrine neoplasia
- Additional findings health related - CNV analysis children
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited non-medullary thyroid cancer
- Additional findings health related
- Neuroendocrine cancer pertinent cancer susceptibility
- Childhood solid tumours cancer susceptibility
History Filter Activity
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for MEN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
GEL ()MEN1 was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: UKGTN
Added New Source
GEL ()MEN1 was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()MEN1 was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Illumina TruGenome Clinical Sequencing Services