Tumour predisposition - childhood onset

Gene: MTAP

Red List (low evidence)

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

1 review

Lara Hawkes (Genomics England)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
UPS of bone; Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250

History Filter Activity

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: MTAP was added gene: MTAP was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: MTAP was set to