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Miscellaneous Metabolic Disorders v0.223 | SLC5A1 | Zornitza Stark Marked gene: SLC5A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Miscellaneous Metabolic Disorders v0.223 | SLC5A1 | Zornitza Stark Gene: slc5a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Miscellaneous Metabolic Disorders v0.223 | SLC5A1 | Zornitza Stark Classified gene: SLC5A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Miscellaneous Metabolic Disorders v0.223 | SLC5A1 | Zornitza Stark Gene: slc5a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Miscellaneous Metabolic Disorders v0.222 | SLC5A1 |
Zornitza Stark gene: SLC5A1 was added gene: SLC5A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A1 were set to 27604308; 2008213; 8195156; 20486940 Phenotypes for gene: SLC5A1 were set to Glucose/galactose malabsorption MIM# 606824; (Disorders of glucose transport) Review for gene: SLC5A1 was set to GREEN Added comment: At least 3 unrelated families reported, presentation is with osmotic diarrhoea. Sources: Expert list |