Callosome
Gene: SLC12A6

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported with bi-allelic variants in this gene associated with DD/ID, as well as CC abnormalities and peripheral neuropathy.
Created: 24 Oct 2024, 9:41 p.m. | Last Modified: 24 Oct 2024, 9:41 p.m.

Panel Version: 0.532

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 24 Oct 2024, 9:41 p.m.
Last Modified: 24 Oct 2024, 9:41 p.m.
Panel version: 0.532

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

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