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Hearing loss

Gene: SLC9A1

Red List (low evidence)

SLC9A1 (solute carrier family 9 member A1)
EnsemblGeneIds (GRCh38): ENSG00000090020
EnsemblGeneIds (GRCh37): ENSG00000090020
OMIM: 107310, Gene2Phenotype
SLC9A1 is in 2 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#616291:?Lichtenstein-Knorr syndrome[Short stature (1 patient); Sensorineural deafness, postnatal, profound; Nystagmus (in some patients); Delayed motor developmentCerebellar ataxiaGait ataxiaLimb ataxiaDysmetriaDysdiadochokinesisDysarthriaAction tremorCerebellar atrophy (in some patients); Areflexia, upper and lower limbs]

Publications

Details

Sources
  • Expert
OMIM
107310
Clinvar variants
Variants in SLC9A1
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC9A1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert