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Hearing loss

Gene: SLC12A2

Red List (low evidence)

SLC12A2 (solute carrier family 12 member 2)
EnsemblGeneIds (GRCh38): ENSG00000064651
EnsemblGeneIds (GRCh37): ENSG00000064651
OMIM: 600840, Gene2Phenotype
SLC12A2 is in 2 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three families reported.
Created: 3 Jun 2020, 10:45 a.m. | Last Modified: 3 Jun 2020, 10:45 a.m.
Panel Version: 2.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital, severe to profound hearing loss

Publications

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

Jun Shen (Harvard Medical School)

Red List (low evidence)

SLC12A2 is not associated with a phenotype entry in OMIM.
Created: 9 Feb 2016, 10:08 a.m.
SLC12A2 is not associated with a phenotype entry in OMIM.
Created: 7 Feb 2016, 3:45 p.m.

Publications

Details

Sources
  • Expert
OMIM
600840
Clinvar variants
Variants in SLC12A2
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC12A2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert