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Structural eye disease v0.76 | LRMDA | Nicola Ragge reviewed gene: LRMDA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE VII, 615179; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.47 | LRMDA | Ivone Leong edited their review of gene: LRMDA: Changed phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE VII, 615179 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | LRMDA | Ivone Leong reviewed gene: LRMDA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteoporosis-pseudoglioma syndrome, 259770, Exudative vitreoretinopathy 4, 601813, Osteopetrosis, autosomal dominant 1, 607634, van Buchem disease, type 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | LRMDA |
Ivone Leong Source NHS GMS was added to LRMDA. Mode of inheritance for gene LRMDA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ALBINISM, OCULOCUTANEOUS, TYPE VII, 615179 for gene: LRMDA |
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Structural eye disease v0.2 | LRMDA |
Ellen McDonagh gene: LRMDA was added gene: LRMDA was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: LRMDA was set to Phenotypes for gene: LRMDA were set to Eye Disorders |