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Severe Paediatric Disorders v0.12 SLC4A11 Louise Daugherty reviewed gene: SLC4A11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SLC4A1 Louise Daugherty reviewed gene: SLC4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 SLC4A11 Louise Daugherty Publications for gene SLC4A11 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC4A1 Louise Daugherty Publications for gene SLC4A1 were updated from to 30847515
Severe Paediatric Disorders v0.10 SLC4A11 Louise Daugherty Added phenotypes Corneal dystrophy, Fuchs endothelial, 4, 613268; Corneal endothelial dystrophy, autosomal recessive, 217700; Corneal endothelial dystrophy and perceptive deafness, 217400 for gene: SLC4A11
Severe Paediatric Disorders v0.10 SLC4A1 Louise Daugherty Added phenotypes Renal tubular acidosis, distal, AR, 611590; Cryohydrocytosis, 185020; Spherocytosis, type 4, 612653; Ovalocytosis, SA type, 166900; Renal tubular acidosis, distal, AD, 179800 for gene: SLC4A1
Severe Paediatric Disorders v0.9 SLC4A11 Louise Daugherty Added phenotypes Corneal dystrophy, Fuchs endothelial, 4, 613268; Corneal endothelial dystrophy, autosomal recessive, 217700; Corneal endothelial dystrophy and perceptive deafness, 217400 for gene: SLC4A11
Severe Paediatric Disorders v0.9 SLC4A1 Louise Daugherty Added phenotypes Renal tubular acidosis, distal, AR, 611590; Cryohydrocytosis, 185020; Spherocytosis, type 4, 612653; Ovalocytosis, SA type, 166900; Renal tubular acidosis, distal, AD, 179800 for gene: SLC4A1
Severe Paediatric Disorders v0.9 SLC4A11 Louise Daugherty Added phenotypes Corneal dystrophy, Fuchs endothelial, 4, 613268; Corneal endothelial dystrophy, autosomal recessive, 217700; Corneal endothelial dystrophy and perceptive deafness, 217400 for gene: SLC4A11
Severe Paediatric Disorders v0.9 SLC4A1 Louise Daugherty Added phenotypes Renal tubular acidosis, distal, AR, 611590; Cryohydrocytosis, 185020; Spherocytosis, type 4, 612653; Ovalocytosis, SA type, 166900; Renal tubular acidosis, distal, AD, 179800 for gene: SLC4A1
Severe Paediatric Disorders v0.8 SLC4A11 Louise Daugherty Added phenotypes Corneal endothelial dystrophy, autosomal recessive, 217700; Corneal endothelial dystrophy and perceptive deafness, 217400; Corneal dystrophy, Fuchs endothelial, 4, 613268 for gene: SLC4A11
Severe Paediatric Disorders v0.8 SLC4A1 Louise Daugherty Added phenotypes Ovalocytosis, SA type, 166900; Renal tubular acidosis, distal, AD, 179800; Cryohydrocytosis, 185020; Renal tubular acidosis, distal, AR, 611590; Spherocytosis, type 4, 612653 for gene: SLC4A1
Severe Paediatric Disorders v0.8 SLC4A11 Louise Daugherty Mode of inheritance for gene SLC4A11 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Corneal dystrophy, Fuchs endothelial, 4, 613268; Corneal endothelial dystrophy, autosomal recessive, 217700; Corneal endothelial dystrophy and perceptive deafness, 217400 for gene: SLC4A11
Severe Paediatric Disorders v0.8 SLC4A1 Louise Daugherty Mode of inheritance for gene SLC4A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Renal tubular acidosis, distal, AR, 611590; Cryohydrocytosis, 185020; Spherocytosis, type 4, 612653; Ovalocytosis, SA type, 166900; Renal tubular acidosis, distal, AD, 179800 for gene: SLC4A1
Severe Paediatric Disorders v0.7 SLC4A11 Louise Daugherty Source Next Generation Children Project was added to SLC4A11.
Severe Paediatric Disorders v0.7 SLC4A1 Louise Daugherty Source Next Generation Children Project was added to SLC4A1.
Severe Paediatric Disorders v0.5 SLC4A11 Louise Daugherty Source Expert Review Green was added to SLC4A11.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SLC4A1 Louise Daugherty Source Expert Review Green was added to SLC4A1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 SLC4A11 Louise Daugherty gene: SLC4A11 was added
gene: SLC4A11 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SLC4A11 was set to
Severe Paediatric Disorders v0.4 SLC4A1 Louise Daugherty gene: SLC4A1 was added
gene: SLC4A1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SLC4A1 was set to