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Structural eye disease v0.76 | PEX26 | Nicola Ragge reviewed gene: PEX26: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 7B, 614873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.76 | PEX2 | Nicola Ragge reviewed gene: PEX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B, 614866, 614867; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.49 | PEX26 | Ivone Leong edited their review of gene: PEX26: Changed phenotypes: Peroxisome biogenesis disorder 7B, 614873 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.49 | PEX2 | Ivone Leong edited their review of gene: PEX2: Changed phenotypes: Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B, 614866, 614867 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.39 | PEX26 | Ivone Leong reviewed gene: PEX26: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger), 603164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.39 | PEX2 | Ivone Leong reviewed gene: PEX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 7B, 614873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.13 | PEX26 |
Ivone Leong gene: PEX26 was added gene: PEX26 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7B, 614873 |
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Structural eye disease v0.13 | PEX2 |
Ivone Leong gene: PEX2 was added gene: PEX2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger), 614866; Peroxisome biogenesis disorder 5B, 614867 |