MTAP

methylthioadenosine phosphorylase
OMIM: 156540, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red MTAP in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.16
Signed off v.2.5 on 4 Mar 2020

review Not set
Sources
  • Expert List

Green MTAP in Sarcoma cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.15

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 2.71
Signed off v.2.2 on 13 Feb 2020

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 Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.146
    Signed off v.2.5 on 13 Feb 2020

    review Not set
    Sources
    • Expert

    Green MTAP in Sarcoma susceptibility


    Version 1.5
    Signed off v.1.2 on 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 112250
    • UPS of bone