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| Prepair 1000+ v1.389 | BSCL2 | Lilian Downie Marked gene: BSCL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.389 | BSCL2 | Lilian Downie Gene: bscl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.389 | BSCL2 | Lilian Downie Phenotypes for gene: BSCL2 were changed from Encephalopathy, progressive, with or without lipodystrophy, 615924 (3) to Encephalopathy, progressive, with or without lipodystrophy (MIM#615924); Lipodystrophy, congenital generalized, type 2 (MIM#269700) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.388 | BSCL2 | Lilian Downie Publications for gene: BSCL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.355 | BSCL2 | Crystle Lee reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23564749, 23659685, 26815532; Phenotypes: Encephalopathy, progressive, with or without lipodystrophy (MIM#615924), Lipodystrophy, congenital generalized, type 2 (MIM#269700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | BSCL2 |
Zornitza Stark gene: BSCL2 was added gene: BSCL2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BSCL2 were set to Encephalopathy, progressive, with or without lipodystrophy, 615924 (3) |
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