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| Leukodystrophy - paediatric v0.44 | SPART | Bryony Thompson Classified gene: SPART as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.44 | SPART | Bryony Thompson Gene: spart has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.43 | SPART |
Bryony Thompson gene: SPART was added gene: SPART was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPART were set to 28875386; 15372254 Phenotypes for gene: SPART were set to Troyer syndrome 275900 Review for gene: SPART was set to GREEN Added comment: White matter abnormalities reported in at least 3 unrelated families, including the original Amish family where the condition was first described. Sources: Expert list |
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