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| Renal tubulopathies v1.64 | SLC4A1 | Eleanor Williams Phenotypes for gene: SLC4A1 were changed from Distal Renal Tubular Acidosis, Dominant; Ovalocytosis; Distal renal tubular acidosis to Distal Renal Tubular Acidosis, Dominant; Ovalocytosis; Distal renal tubular acidosis; Renal tubular acidosis, distal, AD,179800; Renal tubular acidosis, distal, AR, 611590; Cryohydrocytosis, 185020; Ovalocystois, SA type 166900; Spherocytoisis type 4, 612653; various blood group associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.63 | SLC4A1 | Eleanor Williams Publications for gene: SLC4A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.16 | SLC4A1 | Eleanor Williams reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Renal tubular acidosis, distal, AD, MIM 179800, Renal tubular acidosis, distal, AR, MIM 611590, Cryohydrocytosis, MIM 185020, Ovalocystois, SA type MIM 166900, Spherocytoisis type 4, MIM 612653, various blood group associations.; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.15 | SLC4A1 |
Eleanor Williams Source NHS GMS was added to SLC4A1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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