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Facial papules

Gene: MEN1

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Facial angiofibromas are a non-endocrine tumour that can be present in multiple endocrine neoplasia type 1.
Sources: Expert list
Created: 18 Jun 2023, 11:17 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
multiple endocrine neoplasia type 1 MONDO:0007540

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 18 Jun 2023, 11:17 p.m.

Panel version: 0.12

History Filter Activity

18 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

18 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

18 Jun 2023, Gel status: 1

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 Facial papules and lesions. Sources: Expert list Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MEN1 were set to 20301710 Phenotypes for gene: MEN1 were set to multiple endocrine neoplasia type 1 MONDO:0007540 Review for gene: MEN1 was set to GREEN gene: MEN1 was marked as current diagnostic