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Unexplained young onset end-stage renal disease v4.3 | SLC4A4 | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SLC4A4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Unexplained young onset end-stage renal disease v4.3 | SLC4A4 | Arina Puzriakova reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Unexplained young onset end-stage renal disease v4.2 | SLC4A4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC4A4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Unexplained young onset end-stage renal disease v3.21 | SLC4A4 | Achchuthan Shanmugasundram reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities, 604278, Proximal Renal Tubular Acidosis with Ocular Abnormalities, Proximal Renal Tubular Acidosis with Ocular Abnormalities (recessive).; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Unexplained young onset end-stage renal disease v3.18 | SLC4A4 | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SLC4A4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Unexplained young onset end-stage renal disease v3.17 | SLC4A4 |
Achchuthan Shanmugasundram gene: SLC4A4 was added gene: SLC4A4 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities, 604278; Proximal Renal Tubular Acidosis with Ocular Abnormalities; Proximal Renal Tubular Acidosis with Ocular Abnormalities (recessive). |