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| Leukodystrophy v0.340 | Bryony Thompson Copied gene C1R from panel Leukodystrophy - adult onset | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.340 | C1R |
Bryony Thompson gene: C1R was added gene: C1R was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other,Literature Mode of inheritance for gene: C1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: C1R were set to 8958339; 30535813 Phenotypes for gene: C1R were set to Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080); Leukodystrophy - adult onset Penetrance for gene: C1R were set to unknown Mode of pathogenicity for gene: C1R was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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