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Renal Tubulopathies and related disorders v0.16 | SLC1A1 | Chirag Patel reviewed gene: SLC1A1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21123949; Phenotypes: Dicarboxylic aminoaciduria, MIM# 222730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Tubulopathies and related disorders v0.4 | SLC1A1 |
Zornitza Stark gene: SLC1A1 was added gene: SLC1A1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Amber Mode of inheritance for gene: SLC1A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC1A1 were set to 21123949 Phenotypes for gene: SLC1A1 were set to Dicarboxylic aminoaciduria, MIM# 222730 |