Skeletal dysplasia
Gene: MTAP

MTAP (methylthioadenosine phosphorylase)
EnsemblGeneIds (GRCh38): ENSG00000099810
EnsemblGeneIds (GRCh37): ENSG00000099810
OMIM: 156540, Gene2Phenotype
MTAP is in 5 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM. Only two variants reported
Created: 29 Jul 2016, 8:10 a.m.

Created: 29 Jul 2016, 8:10 a.m.

Panel version: 0.976

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:06 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Expert list
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250

OMIM

156540

Clinvar variants

Variants in MTAP

Penetrance

Complete

Panels with this gene