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| Regression v0.228 | BSCL2 | Zornitza Stark Marked gene: BSCL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.228 | BSCL2 | Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.228 | BSCL2 | Zornitza Stark Classified gene: BSCL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.228 | BSCL2 | Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.227 | BSCL2 |
Zornitza Stark gene: BSCL2 was added gene: BSCL2 was added to Regression. Sources: Expert Review Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BSCL2 were set to 23564749; 27452399 Phenotypes for gene: BSCL2 were set to Encephalopathy, progressive, with or without lipodystrophy 615924 Review for gene: BSCL2 was set to GREEN Added comment: Progressive encephalopathy with or without lipodystrophy is a severe neurodegenerative disorder characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade. Patients may show a mild or typical lipodystrophic appearance. At least 5 unrelated families reported. The recurrent c.985C-T variant causes skipping of exon 7 (founder effect). Sources: Expert Review |
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