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Gene: SLC12A6

Green List (high evidence)
SLC12A6 (solute carrier family 12 member 6)
EnsemblGeneIds (GRCh38): ENSG00000140199
EnsemblGeneIds (GRCh37): ENSG00000140199
OMIM: 604878, Gene2Phenotype
SLC12A6 is in 11 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) is also known as Andermann syndrome.
Onset in infancy, characterised by severe progressive sensorimotor neuropathy and cognitive impairment (OMID: 34706912).
Created: 6 Jan 2025, 3:12 a.m. | Last Modified: 6 Jan 2025, 3:12 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000

Publications

Created: 6 Jan 2025, 3:12 a.m.
Last Modified: 6 Jan 2025, 3:12 a.m.
Panel version: 1.992

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000
OMIM
604878
Clinvar variants
Variants in SLC12A6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc12a6 has been classified as Green List (High Evidence).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC12A6 were changed from Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3) to Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC12A6 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3) for gene: SLC12A6

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC12A6 was added gene: SLC12A6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC12A6 were set to Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)