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| Fetal anomalies v0.1754 | SLC12A6 | Seb Lunke Marked gene: SLC12A6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1754 | SLC12A6 | Seb Lunke Gene: slc12a6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1754 | SLC12A6 | Seb Lunke Phenotypes for gene: SLC12A6 were changed from AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY to Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1753 | SLC12A6 | Seb Lunke reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31439721, 27485015, 16606917, 21628467, 12368912, 17893295; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC12A6 |
Zornitza Stark gene: SLC12A6 was added gene: SLC12A6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC12A6 were set to 31439721; 21628467; 16606917; 12368912; 27485015; 17893295 Phenotypes for gene: SLC12A6 were set to AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY |
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