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Monogenic hearing loss

Gene: SOD1

Red List (low evidence)
SOD1 (superoxide dismutase 1)
EnsemblGeneIds (GRCh38): ENSG00000142168
EnsemblGeneIds (GRCh37): ENSG00000142168
OMIM: 147450, Gene2Phenotype
SOD1 is in 5 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#105400:Amyotrophic lateral sclerosis 1[Muscle weakness and atrophyFasciculationsMuscle cramps; SpasticityHyperreflexiaOcular motility sparedUpper and lower neuron manifestationsBulbar dysfunction (e.g. dysarthria and dysphagia)Sleep apneaPseudobulbar palsy (e.g. involuntary weeping or laughter)Pathologic changes in anterior horn cells and lateral corticospinal tracts; Reduced cytosolic superoxide dismutase-1 (SOD1)]

Publications

Created: 7 Feb 2016, 9:01 a.m.

Panel version: 0.105

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SOD1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert