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Structural eye disease v0.76 | SPATA7 | Nicola Ragge reviewed gene: SPATA7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 3, Retinitis pigmentosa, juvenile, autosomal recessive, 604232, 604232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.48 | SPATA7 | Ivone Leong edited their review of gene: SPATA7: Changed phenotypes: Leber congenital amaurosis 3, 604232, Retinitis pigmentosa, juvenile, autosomal recessive, 604232 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | SPATA7 | Ivone Leong reviewed gene: SPATA7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES, 270420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | SPATA7 |
Ivone Leong Source NHS GMS was added to SPATA7. Mode of inheritance for gene SPATA7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa, juvenile, autosomal recessive, 604232; Leber congenital amaurosis 3, 604232 for gene: SPATA7 |
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Structural eye disease v0.2 | SPATA7 |
Ellen McDonagh gene: SPATA7 was added gene: SPATA7 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: SPATA7 was set to Phenotypes for gene: SPATA7 were set to Eye Disorders |