MTAP

methylthioadenosine phosphorylase
OMIM: 156540, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red MTAP in Childhood solid tumours


Level 2: Cancer susceptibility
Version 5.9
Latest signed off version: v5.0 (30 Apr 2025)

review Not set
Sources
  • Expert List
Green MTAP in Sarcoma cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.26

review 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
Red MTAP in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250
    Red MTAP in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert
    Green MTAP in Sarcoma susceptibility


    Level 2: Cancer susceptibility
    Version 1.82
    Latest signed off version: v1.2 (18 Feb 2020)

    review 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