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  2. Monogenic hearing loss
  3. DMD
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Monogenic hearing loss

Gene: DMD

Red List (low evidence)
DMD (dystrophin)
EnsemblGeneIds (GRCh38): ENSG00000198947
EnsemblGeneIds (GRCh37): ENSG00000198947
OMIM: 300377, Gene2Phenotype
DMD is in 19 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Red List (low evidence)

Inheritance:X-linked;X-linked recessive
Created: 9 Feb 2016, 10:06 a.m.
Inheritance:X-linked;X-linked recessive
Created: 7 Feb 2016, 7:06 p.m.
Inheritance:X-linked recessive;X-linked
Created: 7 Feb 2016, 3:41 p.m.
Inheritance:X-linked recessive,X-linked
Created: 7 Feb 2016, 9:23 a.m.
Inheritance:X-linked
Created: 7 Feb 2016, 8:56 a.m.

Mode of inheritance
Other

Phenotypes
#300376:Becker muscular dystrophy[Cardiomyopathy, late onset; Calf and thigh cramping muscle painsCalf muscle pseudohypertrophyWeakness; Hyporeflexia; High serum creatine kinaseAbnormal electrocardiogramAbnormal dystrophin on muscle biopsy]; #302045:Cardiomyopathy, dilated, 3B[Dilated cardiomyopathy; Second decade onset in males; Late onset in heterozygous females]; #310200:Duchenne muscular dystrophy[Red-green color defect in many patients with deletion downstream of exon 30; Cardiomyopathy, dilatedCongestive heart failure; Pulmonary hypoventilationRespiratory failure; Increased lordosisScoliosis; Flexion contractures; Calf muscle pseudohypertrophyWeakness; Mental retardation, mild (20% have more severe mental retardation); HypotoniaWaddling gaitHyporeflexiaPositive Gowers sign; High serum creatine kinaseAbnormal electrocardiogramAbsent dystrophin on muscle biopsy]

Publications

History Filter Activity

2 Jun 2020, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Skewed X-inactivation tag was added to gene: DMD.

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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