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Fetal anomalies v0.3286 | SLC4A4 | Zornitza Stark Marked gene: SLC4A4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3286 | SLC4A4 | Zornitza Stark Gene: slc4a4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3286 | SLC4A4 | Zornitza Stark Phenotypes for gene: SLC4A4 were changed from PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES to Renal tubular acidosis, proximal, with ocular abnormalities (MIM#604278) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3279 | SLC4A4 | Daniel Flanagan reviewed gene: SLC4A4: Rating: RED; Mode of pathogenicity: None; Publications: 10545938, 11274232; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities (MIM#604278); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.0 | SLC4A4 |
Zornitza Stark gene: SLC4A4 was added gene: SLC4A4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A4 were set to 16636648; 10545938; 11131345 Phenotypes for gene: SLC4A4 were set to PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES |