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| Leukodystrophy - paediatric v0.35 | PPT1 | Bryony Thompson Classified gene: PPT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.35 | PPT1 | Bryony Thompson Gene: ppt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.34 | PPT1 |
Bryony Thompson gene: PPT1 was added gene: PPT1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPT1 were set to 5706364; 8576553 Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1 256730 Review for gene: PPT1 was set to AMBER Added comment: White matter changes have been reported in neuronal ceroid lipofuscinosis, but not reported in association with this gene. Sources: Expert list |
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