| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hereditary Neuropathy_CMT - isolated v1.35 | SLC12A6 | Bryony Thompson Marked gene: SLC12A6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.35 | SLC12A6 | Bryony Thompson Gene: slc12a6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.35 | SLC12A6 | Bryony Thompson Classified gene: SLC12A6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.35 | SLC12A6 | Bryony Thompson Gene: slc12a6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.34 | SLC12A6 |
Sangavi Sivagnanasundram gene: SLC12A6 was added gene: SLC12A6 was added to Hereditary Neuropathy_CMT - isolated. Sources: Other Mode of inheritance for gene: SLC12A6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC12A6 were set to 31439721; 27485015; 33323309 Phenotypes for gene: SLC12A6 were set to Charcot-Marie-Tooth disease, axonal, type 2II (MIM#620068) Review for gene: SLC12A6 was set to GREEN Added comment: 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||