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Hearing loss

Gene: ST3GAL5

Red List (low evidence)

ST3GAL5 (ST3 beta-galactoside alpha-2,3-sialyltransferase 5)
EnsemblGeneIds (GRCh38): ENSG00000115525
EnsemblGeneIds (GRCh37): ENSG00000115525
OMIM: 604402, Gene2Phenotype
ST3GAL5 is in 9 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#609056:Amish infantile epilepsy syndrome[Failure to thrive; Microcephaly (in some patients); Deafness (in some patients); Optic atrophyLoss of visionDecreased eye contactEye deviationCortical visual impairment; Poor feedingVomiting; DyspigmentationHyperpigmented 2 to 5-mm macules mainly on the extremitiesDe- or hypo-pigmented macules (less common); Delayed psychomotor developmentSeizures (may be difficult to control)Generalized clonic-tonic seizuresStatus epilepticusTonic spasmsStartle myoclonusMultifocal epileptiform discharges on diffuse slow backgroundDevelopmental stagnation at onset of seizuresDevelopmental regressionHypotoniaInability to sit unsupportedInability to reachNo speech or language developmentNon-purposeful arm movements, choreoathetoid-likeDiffuse brain atrophy; Hyporeflexia in the upper limbsHyperreflexia in the lower limbs; Irritability]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ST3GAL5 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert