Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Date	Panel	Item	Activity
Filter activities 4 actions
19 Jun 2019	Structural eye disease v0.76	SLC4A11	Nicola Ragge reviewed gene: SLC4A11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, Corneal endothelial dystrophy 2, autosomal recessive, Corneal dystrophy, Fuchs endothelial, 4, 217400, 217700, 613268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Apr 2019	Structural eye disease v0.49	SLC4A11	Ivone Leong edited their review of gene: SLC4A11: Changed phenotypes: Corneal endothelial dystrophy and perceptive deafness, Corneal endothelial dystrophy 2, autosomal recessive, Corneal dystrophy, Fuchs endothelial, 4, 217400, 217700, 613268
17 Apr 2019	Structural eye disease v0.39	SLC4A11	Ivone Leong reviewed gene: SLC4A11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities, 604278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
17 Apr 2019	Structural eye disease v0.13	SLC4A11	Ivone Leong gene: SLC4A11 was added gene: SLC4A11 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A11 were set to Corneal endothelial dystrophy and perceptive deafness, 217400; Corneal dystrophy, Fuchs endothelial, 4, 613268; Corneal endothelial dystrophy 2, autosomal recessive, 217700