Hereditary Neuropathy_CMT - isolated

Gene: SLC12A6

Green List (high evidence)

Well established gene-disease association.
>3 unrelated individuals with variants in SLC12A6 and a clinical diagnosis of hereditary neuropathy. Age of onset of disease is variable (typically within the first 4 decades of life).

31439721; 27485015
In vitro functional studies were conducted that showed a reduced in protein activity in the presence of a mutation in SLC12A6 relevant to neuropathy

PMID: 27485015
10yr with progressive axonal peripheral neuropathy and the presence of T991A missense variant. In vitro functional assay using fibroblast and HEK293 cells showed that in the presence of the mutation there was a reduction in protein function.

PMID: 33323309
31M with progressive muscle weakness from the age of 27. Nerve conduction studies confirmed sensorimotor neuropathy indicating intermediate CMT and a genetic finding of R207H heterozygous variant in SLC12A6.
Sources: Other

Created: 23 Oct 2023, 6:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2II (MIM#620068)

Publications

• 31439721
• 27485015
• 33323309