solute carrier family 7 member 9
OMIM: 604144, Gene2Phenotype
Panel | Reviews | Mode of inheritance | Details | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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SLC7A9 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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SLC7A9 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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SLC7A9 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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SLC7A9 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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SLC7A9 in Groopman et al 2019 - Genes with diagnostic variants
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review | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
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SLC7A9 in Childhood onset dystonia, chorea or related movement disorder
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review | Not set |
Sources
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SLC7A9 in Severe Paediatric Disorders
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review | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
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