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Intellectual disability

Gene: SLC1A1

No list

SLC1A1 (solute carrier family 1 member 1)
EnsemblGeneIds (GRCh38): ENSG00000106688
EnsemblGeneIds (GRCh37): ENSG00000106688
OMIM: 133550, Gene2Phenotype
SLC1A1 is in 2 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

ID is part of the phenotype of this metabolic disorder.
Sources: Expert list
Created: 18 Feb 2020, 7:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal


  • Dicarboxylic aminoaciduria, MIM#222730

Variants in this GENE are reported as part of current diagnostic practice


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Clinvar variants
Variants in SLC1A1
  • Dicarboxylic aminoaciduria, MIM#222730
Panels with this gene

History Filter Activity

18 Feb 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications

Zornitza Stark (Australian Genomics)

gene: SLC1A1 was added gene: SLC1A1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: SLC1A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC1A1 were set to Dicarboxylic aminoaciduria, MIM#222730 Review for gene: SLC1A1 was set to GREEN gene: SLC1A1 was marked as current diagnostic