MTAP

methylthioadenosine phosphorylase
OMIM: 156540, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber MTAP in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MIM# 112250

Amber MTAP in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.305

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MIM# 112250