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Hearing loss

Gene: MTAP

Red List (low evidence)

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

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#112250:Diaphyseal medullary stenosis with malignant fibrous histiocytoma[Presenile cataracts; OsteopeniaRadiolucency of the bones; Bony dysplasiaPathologic fractures of the long bonesOsteomyelitis leading to amputation due to slow healing fracturesPatchy sclerotic changes to the long bonesCoarse, sclerotic trabeculaeDiaphyseal cortical thickeningDiaphyseal medullary stenosisMetaphyseal striationsNecrosis in large tubular bone diaphysesNarrow medullary cavitiesMarrow necrosisMarrow infarctionsBowing of the lower extremities; Soft, thin skin (1 family)Easy bruising (1 family); Premature graying (1 family); Limb-girdle muscle weakness (2 families)Proximal muscle weaknessProximal and distal muscle atrophyDistal limb muscle weakness occurs laterMyopathic changes seen on EMG and muscle biopsy; Malignant fibrous histiocytoma (in about 35% of patients)OsteosarcomaFibrosarcoma; Serum alkaline phosphatase normal or mildly increasedSerum creatine kinase normal or mildly increased]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MTAP was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert