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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

Publications

  • Dicarboxylic aminoaciduria, MIM#222730

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
OMIM
133550
Clinvar variants
Variants in SLC1A1
Penetrance
None
Publications
  • 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