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| Structural eye disease v0.76 | LAMB2 | Nicola Ragge reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30778388, 30120985, 28683731, 28188379, 27130041, 29450879; Phenotypes: Pierson syndrome, Nephrotic syndrome, type 5, with or without ocular abnormalities, 609049, 614199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | LAMB2 | Ivone Leong edited their review of gene: LAMB2: Changed phenotypes: Pierson syndrome, Nephrotic syndrome, type 5, with or without ocular abnormalities, 609049, 614199 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | LAMB2 | Ivone Leong reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30778388, 30120985, 28683731, 28188379, 27130041, 29450879; Phenotypes: Fish-eye disease, 136120, Norum disease, 245900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | LAMB2 |
Ivone Leong gene: LAMB2 was added gene: LAMB2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMB2 were set to 27130041; 30778388; 28188379; 30120985; 28683731; 29450879 Phenotypes for gene: LAMB2 were set to Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199; Pierson syndrome, 609049 |
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