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| DDG2P v3.12 | SLC12A6 | Achchuthan Shanmugasundram reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: ; Publications: 16606917, 21628467, 12368912, 17893295; Phenotypes: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, OMIM:218000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC12A6 | Achchuthan Shanmugasundram Publications for gene: SLC12A6 were updated from 12368912; 31439721; 27485015; 16606917; 17893295; 21628467 to 21628467; 12368912; 27485015; 16606917; 17893295; 31439721 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.9 | SLC12A6 | Sarah Leigh commented on gene: SLC12A6: For-review tag has been added as it maybe appropriate to change the MOI to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review, to ensure that de novo heterozgous variants are identified. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.9 | SLC12A6 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.9 | SLC12A6 | Sarah Leigh commented on gene: SLC12A6: Associated with Agenesis of the corpus callosum with peripheral neuropathy 218000 in OMIM and as confirmed Gen2Phen gene. At least 10 biallelic variants were reported in at least 10 unrelated cases. 9/10 of these variants was terminating (PMID 12368912, 16606917, 17893295). Three de novo heterozygous missense variants have been identified in four unrelated cases with a milder phenotype of early- onset progressive Charcot- Marie-tooth disease (CMT) with or without spasticity (intermediate CMT)(PMID 31439721, 27485015). The authors of PMID 31439721 suggest that "autosomal- dominant inheritance of SLC12A6 variants also needs to be considered in patients with early- onset neuropathies". Furthermore, it will be important to understand the functional differences between the variants, as PMID 27485015 reported variant - p.Thr991Ala, resulted in increased potassium influx in Xenopus oocytes (gain-of-function), while the other missense variants identified so far had a loss-of-function effect in varying degrees (PMID 31439721). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.9 | SLC12A6 | Sarah Leigh Added comment: Comment on publications: 12368912;31439721;27485015;16606917;17893295;21628467 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.9 | SLC12A6 | Sarah Leigh Publications for gene: SLC12A6 were set to 17893295; 16606917; 21628467; 12368912 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC12A6 | Rebecca Foulger reviewed gene: SLC12A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC12A6 |
Rebecca Foulger gene: SLC12A6 was added gene: SLC12A6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC12A6 were set to 17893295; 16606917; 21628467; 12368912 Phenotypes for gene: SLC12A6 were set to AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY 218000 |
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