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| Leukodystrophy - adult onset v0.107 | PLD3 | Bryony Thompson Classified gene: PLD3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.107 | PLD3 | Bryony Thompson Gene: pld3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.106 | PLD3 |
Tegan French gene: PLD3 was added gene: PLD3 was added to Leukodystrophy - adult onset. Sources: Literature Mode of inheritance for gene: PLD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLD3 were set to PMID: 34267643 Phenotypes for gene: PLD3 were set to Leukodystrophy Review for gene: PLD3 was set to AMBER Added comment: Unconfirmed gene-disease association for biallelic LOF variants in PLD3 and leukodystrophy. - Single patient in literature with homozygous frameshift nonsense variants in PLD3. This patient had leukodystrophy, vision and hearing impairment, impaired kidney function. - Homozygous frameshift nonsense variants in another unpublished patient with leukodystrophy Sources: Literature |
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