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Structural eye disease v1.148 | RAX | Sarah Leigh Phenotypes for gene: RAX were changed from Anophthalmia/Microphthalmia to Microphthalmia, isolated 3, OMIM:611038; isolated microphthalmia 3, MONDO:0012604 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.147 | RAX | Sarah Leigh Publications for gene: RAX were set to 24033328; 14662654; 18783408 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.76 | RAX2 | Nicola Ragge reviewed gene: RAX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 11, Macular degeneration, age-related, 6, 610381, 613757; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.76 | RAX | Nicola Ragge reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: ; Publications: 14662654, 18783408, 24033328; Phenotypes: Anophthalmia/Microphthalmia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.48 | RAX2 | Ivone Leong edited their review of gene: RAX2: Changed phenotypes: Cone-rod dystrophy 11, 610381, Macular degeneration, age-related, 6, 613757 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | RAX2 | Ivone Leong reviewed gene: RAX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Retinitis pigmentosa 66, 615233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | RAX | Ivone Leong reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: ; Publications: 14662654, 18783408, 24033328; Phenotypes: Anophthalmia/Microphthalmia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | RAX2 |
Ivone Leong Source NHS GMS was added to RAX2. Mode of inheritance for gene RAX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Macular degeneration, age-related, 6, 613757; Cone-rod dystrophy 11, 610381 for gene: RAX2 |
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Structural eye disease v0.15 | RAX |
Ivone Leong Source NHS GMS was added to RAX. Added phenotypes Anophthalmia/Microphthalmia for gene: RAX Publications for gene RAX were changed from to 24033328; 14662654; 18783408 |
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Structural eye disease v0.2 | RAX2 |
Ellen McDonagh gene: RAX2 was added gene: RAX2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: RAX2 was set to Phenotypes for gene: RAX2 were set to Eye Disorders |
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Structural eye disease v0.2 | RAX |
Ellen McDonagh gene: RAX was added gene: RAX was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAX were set to Anophthalmia/Microphthalmia |