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Intellectual disability v5.363 SLC12A6 Arina Puzriakova Phenotypes for gene: SLC12A6 were changed from Agenesis of the corpus callosum with peripheral neuropathy, 218000 -3; AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (ACCPN) to Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000
Intellectual disability v3.1514 SLC12A6 Arina Puzriakova commented on gene: SLC12A6
Intellectual disability v3.1514 SLC12A6 Arina Puzriakova Tag for-review was removed from gene: SLC12A6.
Intellectual disability v3.1510 SLC12A6 Sarah Leigh commented on gene: SLC12A6: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability v3.161 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.
Intellectual disability v3.161 SLC12A6 Sarah Leigh commented on gene: SLC12A6
Intellectual disability v3.161 SLC12A6 Sarah Leigh Publications for gene: SLC12A6 were set to
Intellectual disability v3.160 SLC12A6 Sarah Leigh Tag for-review tag was added to gene: SLC12A6.
Intellectual disability v2.468 SLC12A6 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC12A6.
Intellectual disability SLC12A6 BRIDGE consortium edited their review of SLC12A6
Intellectual disability SLC12A6 BRIDGE consortium edited their review of SLC12A6
Intellectual disability SLC12A6 BRIDGE consortium reviewed SLC12A6