Sarcoma cancer susceptibility
Gene: MTAPEnsemblGeneIds (GRCh38): ENSG00000099810
EnsemblGeneIds (GRCh37): ENSG00000099810
OMIM: 156540, Gene2Phenotype
MTAP is in 5 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene was reviewed by Lara Hawkes (Cancer Clinical Team, Genomics England) and agrees this should be included on this panel.Created: 20 Aug 2018, 1:29 p.m.
Gene and evidence provided by Adrienne Flanagan, UCL.Created: 14 May 2018, 3:30 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- UPS of bone
- Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250
- OMIM
- 156540
- Clinvar variants
- Variants in MTAP
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Gene and evidence provided by
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MTAP were set to 19197386; 22464254
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set mode of inheritance, Set penetrance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MTAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene MTAP were set to UPS of bone, Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250
Added New Source
Ellen McDonagh (Genomics England Curator)MTAP was added to Sarcoma pertinent cancer susceptibility panel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)MTAP was created by Ellen McDonagh