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Severe Paediatric Disorders v0.17 C4A Louise Daugherty Mode of inheritance for gene C4A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 SLC4A4 Louise Daugherty reviewed gene: SLC4A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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 v0.12 C4A Louise Daugherty reviewed gene: C4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 SLC4A4 Louise Daugherty Publications for gene SLC4A4 were updated from to 30847515
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 v0.11 C4A Louise Daugherty Publications for gene C4A were updated from to 30847515
Severe Paediatric Disorders v0.10 SLC4A4 Louise Daugherty Added phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, 604278 for gene: SLC4A4
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 v0.10 C4A Louise Daugherty Added phenotypes C4a deficiency, 614380 for gene: C4A
Severe Paediatric Disorders v0.9 SLC4A4 Louise Daugherty Added phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, 604278 for gene: SLC4A4
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 C4A Louise Daugherty Added phenotypes C4a deficiency, 614380 for gene: C4A
Severe Paediatric Disorders v0.9 SLC4A4 Louise Daugherty Added phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, 604278 for gene: SLC4A4
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 C4A Louise Daugherty Added phenotypes C4a deficiency, 614380 for gene: C4A
Severe Paediatric Disorders v0.8 SLC4A4 Louise Daugherty Added phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, 604278 for gene: SLC4A4
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 C4A Louise Daugherty Added phenotypes C4a deficiency, 614380 for gene: C4A
Severe Paediatric Disorders v0.8 SLC4A4 Louise Daugherty Mode of inheritance for gene SLC4A4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, 604278 for gene: SLC4A4
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 SLC4A4 Louise Daugherty Source Next Generation Children Project was added to SLC4A4.
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 v0.7 C4A Louise Daugherty Source Next Generation Children Project was added to C4A.
Severe Paediatric Disorders v0.5 SLC4A4 Louise Daugherty Source Expert Review Green was added to SLC4A4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
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 v0.5 C4A Louise Daugherty Source Expert Review Green was added to C4A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 SLC4A4 Louise Daugherty gene: SLC4A4 was added
gene: SLC4A4 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SLC4A4 was set to
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
Severe Paediatric Disorders v0.4 C4A Louise Daugherty gene: C4A was added
gene: C4A was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: C4A was set to