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| Leukodystrophy - paediatric v0.32 | PLEKHG2 | Bryony Thompson Classified gene: PLEKHG2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.32 | PLEKHG2 | Bryony Thompson Gene: plekhg2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.31 | PLEKHG2 |
Bryony Thompson gene: PLEKHG2 was added gene: PLEKHG2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: PLEKHG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHG2 were set to 26573021 Phenotypes for gene: PLEKHG2 were set to Leukodystrophy and acquired microcephaly with or without dystonia 616763 Review for gene: PLEKHG2 was set to AMBER Added comment: 5 children from 2 unrelated consanguineous families with leukodystrophy and acquired microcephaly with or without dystonia, and homozygous for the same variant. Limited functional assays were conducted. Sources: Expert list |
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