solute carrier family 5 member 2
OMIM: 182381,
ClinGen,
DECIPHER
| Panel | Reviews | Mode of inheritance | Details | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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SLC5A2 in Mendeliome
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1 review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SLC5A2 in Intellectual disability syndromic and non-syndromic
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1 review | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
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SLC5A2 in Additional findings_Paediatric
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0 reviews | BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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SLC5A2 in BabyScreen+ newborn screening
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1 review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SLC5A2 in Renal Tubulopathies and related disorders
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1 review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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