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Hearing loss

Gene: SLC12A6

Red List (low evidence)

SLC12A6 (solute carrier family 12 member 6)
EnsemblGeneIds (GRCh38): ENSG00000140199
EnsemblGeneIds (GRCh37): ENSG00000140199
OMIM: 604878, Gene2Phenotype
SLC12A6 is in 7 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

#218000:Agenesis of the corpus callosum with peripheral neuropathy[Brachycephaly; Narrow foreheadHypoplastic maxillaFacial asymmetryFacial diplegiaLong face; Large ears; HypertelorismPtosisGaze palsies; Broad nasal rootShort nose; High-arched palateProtruding, fissured tongue; Restrictive respiratory disease; Joint contractures; Scoliosis; Long tapered fingers; Syndactyly of the second and third toesOverriding of the first toe; Low hairline; Progressive distal and proximal symmetric limb weaknessNeonatal hypotoniaAmyotrophyEMG shows denervation; Delayed motor milestonesDevelopmental delayHypotonia, generalizedMental retardation, mild to severeIndividuals can stand or walk with support by 4 to 6 years of ageSeizuresAgenesis of the corpus callosumEnlarged ventriclesAxonal swelling of spinal nerve roots and cranial nerves; Peripheral motor neuropathy, severePeripheral sensory neuropathy, severeAreflexiaLimb tremorSural nerve biopsy shows absence of large myelinated fibersAxonal neuropathyAxonal degeneration/regenerationDemyelinating neuropathy' Onion bulb' formationsHypomyelinated fibersDecreased motor and sensory nerve conduction velocities; Hallucinatory psychosis develops during adolescence; Increased CSF protein]


History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC12A6 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert