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Leukodystrophy - paediatric v0.0 PEX19 Bryony Thompson gene: PEX19 was added
gene: PEX19 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger), 614886
Leukodystrophy - paediatric v0.0 PEX16 Bryony Thompson gene: PEX16 was added
gene: PEX16 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A (Zellweger), 614876; Peroxisome biogenesis disorder 8B, 614877
Leukodystrophy - paediatric v0.0 PEX14 Bryony Thompson gene: PEX14 was added
gene: PEX14 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger), 614887
Leukodystrophy - paediatric v0.0 PEX13 Bryony Thompson gene: PEX13 was added
gene: PEX13 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11B, 614885; Peroxisome biogenesis disorder 11A (Zellweger), 614883
Leukodystrophy - paediatric v0.0 PEX12 Bryony Thompson gene: PEX12 was added
gene: PEX12 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A, 614859; Peroxisome biogenesis disorder 3B, 266510
Leukodystrophy - paediatric v0.0 PEX11B Bryony Thompson gene: PEX11B was added
gene: PEX11B was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX11B were set to ?Peroxisome biogenesis disorder 14B, 614920
Leukodystrophy - paediatric v0.0 PEX10 Bryony Thompson gene: PEX10 was added
gene: PEX10 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6B, 614871
Leukodystrophy - paediatric v0.0 PEX1 Bryony Thompson gene: PEX1 was added
gene: PEX1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1B (NALD/IRD), 601539