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Fetal anomalies

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

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Bi-allelic disease well established, leading to variable degrees of agenesis of the corpus callosum. Dominant disease has been described, but results in milder clinical presentation with early-onset neuropathy without agenesis of corpus callosum.
Created: 3 Jan 2022, 10:40 p.m. | Last Modified: 3 Jan 2022, 10:40 p.m.
Panel Version: 0.1753

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
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

3 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

3 Jan 2022, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: SLC12A6 were changed from AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY to Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC12A6 was added gene: SLC12A6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC12A6 were set to 31439721; 21628467; 16606917; 12368912; 27485015; 17893295 Phenotypes for gene: SLC12A6 were set to AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY