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Structural eye disease v0.76 | MFSD8 | Nicola Ragge reviewed gene: MFSD8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 7, MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, 610951, 616170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.48 | MFSD8 | Ivone Leong edited their review of gene: MFSD8: Changed phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 7, 610951, MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, 616170 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | MFSD8 | Ivone Leong reviewed gene: MFSD8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT, 616722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | MFSD8 |
Ivone Leong Source NHS GMS was added to MFSD8. Mode of inheritance for gene MFSD8 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, 616170; CEROID LIPOFUSCINOSIS, NEURONAL, 7, 610951 for gene: MFSD8 |
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Structural eye disease v0.2 | MFSD8 |
Ellen McDonagh gene: MFSD8 was added gene: MFSD8 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: MFSD8 was set to Phenotypes for gene: MFSD8 were set to Eye Disorders |