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  2. Sarcoma susceptibility
  3. MTAP
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Sarcoma susceptibility

Gene: MTAP

Green List (high evidence)
MTAP (methylthioadenosine phosphorylase)
EnsemblGeneIds (GRCh38): ENSG00000099810
EnsemblGeneIds (GRCh37): ENSG00000099810
OMIM: 156540, Gene2Phenotype
MTAP is in 5 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: agreed that there is enough evidence to rate this gene green.
Created: 23 Jul 2019, 3:16 p.m. | Last Modified: 23 Jul 2019, 3:16 p.m.
Panel Version: 0.2
Created: 23 Jul 2019, 3:16 p.m.
Last Modified: 23 Jul 2019, 3:16 p.m.
Panel version: 0.2

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.
Created: 14 May 2018, 3:30 p.m.

Panel version: Imported from Sarcoma cancer susceptibility panel version 0.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Diaphyseal medullary stenosis with malignant fibrous histiocytoma, OMIM:112250
  • Diaphyseal medullary stenosis-bone malignancy syndrome, MONDO:0007205
OMIM
156540
Clinvar variants
Variants in MTAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MTAP were changed from Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250; UPS of bone to Diaphyseal medullary stenosis with malignant fibrous histiocytoma, OMIM:112250; Diaphyseal medullary stenosis-bone malignancy syndrome, MONDO:0007205

23 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: MTAP was added gene: MTAP was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: MTAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MTAP were set to 19197386; 22464254 Phenotypes for gene: MTAP were set to Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250; UPS of bone