SLC3A1
solute carrier family 3 member 1
OMIM: 104614, Gene2Phenotype
4 panels
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SLC3A1 in Nephrocalcinosis or nephrolithiasis
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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
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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 Childhood onset dystonia, chorea or related movement disorder
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review | Not set |
Sources
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