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Prepair 1000+ v1.2078 SLC12A5 Zornitza Stark Marked gene: SLC12A5 as ready
Prepair 1000+ v1.2078 SLC12A5 Zornitza Stark Gene: slc12a5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2078 SLC12A5 Zornitza Stark Phenotypes for gene: SLC12A5 were changed from Epileptic encephalopathy, early infantile, 34, 616645 (3), Autosomal recessive to Developmental and epileptic encephalopathy 34 MIM#616645
Prepair 1000+ v1.2077 SLC12A5 Zornitza Stark Publications for gene: SLC12A5 were set to
Prepair 1000+ v1.1868 SLC12A5 Andrew Coventry reviewed gene: SLC12A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26333769, 27436767, 24928908, 30763027, 24668262; Phenotypes: Developmental and epileptic encephalopathy 34 MIM#616645; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 SLC12A5 Zornitza Stark gene: SLC12A5 was added
gene: SLC12A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC12A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A5 were set to Epileptic encephalopathy, early infantile, 34, 616645 (3), Autosomal recessive