MTAP

methylthioadenosine phosphorylase
OMIM: 156540, Gene2Phenotype

5 panels

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

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

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

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.25

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 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

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 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.36
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

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


    Version 1.81
    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