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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