MTAP:Ensemblv90

methylthioadenosine phosphorylase
OMIM: 156540, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber MTAP in Mendeliome


Version 1.3802

1 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 0.365

1 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

Red MTAP in TCGA_PANCAN_2018


Version 0.3

0 reviews Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Diaphyseal medullary stenosis with malignant fibrous histiocytoma

Amber MTAP in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

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