Sarcoma cancer susceptibility

Gene: MTAP

Green List (high evidence)

MTAP (methylthioadenosine phosphorylase)
EnsemblGeneIds (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
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

7 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Ellen McDonagh: Gene and evidence provided by

14 May 2018, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MTAP were set to 19197386; 22464254

14 May 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 May 2018, Gel status: 1

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

14 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MTAP was added to Sarcoma pertinent cancer susceptibility panel. Sources: Expert list

14 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

MTAP was created by Ellen McDonagh