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Severe Paediatric Disorders v0.12 | PLA2G6 | Louise Daugherty reviewed gene: PLA2G6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PLA2G6 | Louise Daugherty Publications for gene PLA2G6 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PLA2G6 | Louise Daugherty Mode of inheritance for gene PLA2G6 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | PLA2G6 | Louise Daugherty Added phenotypes Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, autosomal recessive, 612953; Neurodegeneration with brain iron accumulation 2B, 610217 for gene: PLA2G6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PLA2G6 | Louise Daugherty Added phenotypes Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, autosomal recessive, 612953; Neurodegeneration with brain iron accumulation 2B, 610217 for gene: PLA2G6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PLA2G6 | Louise Daugherty Added phenotypes Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, autosomal recessive, 612953; Neurodegeneration with brain iron accumulation 2B, 610217 for gene: PLA2G6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | PLA2G6 | Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 2B, 610217; Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, autosomal recessive, 612953 for gene: PLA2G6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | PLA2G6 | Louise Daugherty Source Next Generation Children Project was added to PLA2G6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | PLA2G6 |
Louise Daugherty Source Expert Review Green was added to PLA2G6. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | PLA2G6 |
Louise Daugherty gene: PLA2G6 was added gene: PLA2G6 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PLA2G6 was set to |