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Hearing loss

Gene: SLITRK6

Red List (low evidence)

SLITRK6 (SLIT and NTRK like family member 6)
EnsemblGeneIds (GRCh38): ENSG00000184564
EnsemblGeneIds (GRCh37): ENSG00000184564
OMIM: 609681, Gene2Phenotype
SLITRK6 is in 1 panel

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple Amish families reported segregating a founder mutation; recent report of another non-Amish family with different variant; mouse model supports gene-disease association. Green or Amber?
Created: 29 Jan 2020, 6:18 a.m. | Last Modified: 29 Jan 2020, 6:18 a.m.
Panel Version: 2.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness and myopia, MIM#221200

Publications

Variants in this GENE are reported as part of current diagnostic practice

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#221200:Deafness and myopia[Hearing loss, prelingual sensorineural, moderate to severeSymmetric deterioration of hearing loss and speech reception with ageSevere to profound hearing impairment by early adulthoodAbsent distortion product otoacoustic emissions (OAEs)Absent ipsilateral middle ear muscle reflexes (in older patients)Increase in amplitude and duration of cochlear microphonic (CM) (in young patients)Absent cochlear microphonic (in older patients)Bilateral dys-synchronized auditory brainstem responsesNo reproducible waves I, III, or V at high intensitiesAbsence of vestibular evoked myogenic potentials (rare); High myopia; Caused by mutation in the SLIT- and NTRK-like family, member-6 gene (SLITRK6,)]

Publications

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Deafness and myopia, 221200
OMIM
609681
Clinvar variants
Variants in SLITRK6
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLITRK6 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen