Activity

Filter

Cancel
Date Panel Item Activity
5 actions
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
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