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Miscellaneous Metabolic Disorders v1.20 | SLC1A1 | Zornitza Stark Marked gene: SLC1A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Miscellaneous Metabolic Disorders v1.20 | SLC1A1 | Zornitza Stark Gene: slc1a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Miscellaneous Metabolic Disorders v1.20 | SLC1A1 | Zornitza Stark Classified gene: SLC1A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Miscellaneous Metabolic Disorders v1.20 | SLC1A1 | Zornitza Stark Gene: slc1a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Miscellaneous Metabolic Disorders v1.19 | SLC1A1 |
Zornitza Stark gene: SLC1A1 was added gene: SLC1A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review Mode of inheritance for gene: SLC1A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC1A1 were set to 21123949 Phenotypes for gene: SLC1A1 were set to Dicarboxylic aminoaciduria, MIM#222730 Review for gene: SLC1A1 was set to AMBER Added comment: Only two families reported and mouse KO. Rated as LIMITED by ClinGen. Sources: Expert Review |