solute carrier family 3 member 1
OMIM: 104614, Gene2Phenotype
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SLC3A1 in Nephrocalcinosis or nephrolithiasis
Level 3: Disorders of function
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SLC3A1 in Unexplained young onset end-stage renal disease
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SLC3A1 in Undiagnosed metabolic disorders
Level 3: Specific metabolic abnormalities
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SLC3A1 in Likely inborn error of metabolism - targeted testing not possible
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SLC3A1 in Groopman et al 2019 - Genes with diagnostic variants
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review | BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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SLC3A1 in Childhood onset dystonia, chorea or related movement disorder
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review | Not set |
Sources
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SLC3A1 in Severe Paediatric Disorders
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review | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
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