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  3. SLC12A6
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Intellectual_disability

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 6 panels

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Details

Sources
  • Known gene (Grozeva et al, 2015)
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Agenesis of the corpus callosum with peripheral neuropathy, 218000 -3
  • Intellectual disability
OMIM
604878
Clinvar variants
Variants in SLC12A6
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC12A6 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC12A6 was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen