Additional findings health related - CNV analysis children
Gene: MEN1
MEN1 (menin 1)
EnsemblGeneIds (GRCh38): ENSG00000133895
EnsemblGeneIds (GRCh37): ENSG00000133895
OMIM: 613733, Gene2Phenotype
MEN1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000133895
EnsemblGeneIds (GRCh37): ENSG00000133895
OMIM: 613733, Gene2Phenotype
MEN1 is in 16 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Myltiple endocrine Neoplasia Type 1
- Other cancer predisposition
- Adult and child
- Transcripts
-
- ENST00000312049.10
- NM_130799.2
- OMIM
- 613733
- Clinvar variants
- Variants in MEN1
- Penetrance
- None
- 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
- Adult solid tumours for rare disease
- Childhood solid tumours
- 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
20 Apr 2020, Gel status: 3
Set transcript
Eleanor Williams (Genomics England Curator)Transcript for gene MEN1 was changed from None to ENST00000312049.10; NM_130799.2
20 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: MEN1 was added gene: MEN1 was added to Additional findings health related child CNVs. Sources: Expert Review Green,Expert list Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MEN1 were set to Myltiple endocrine Neoplasia Type 1; Other cancer predisposition; Adult and child