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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)
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).