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  2. Miscellaneous Metabolic Disorders
  3. SLC1A1
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Miscellaneous Metabolic Disorders

Gene: SLC1A1

Amber List (moderate evidence)
SLC1A1 (solute carrier family 1 member 1)
EnsemblGeneIds (GRCh38): ENSG00000106688
EnsemblGeneIds (GRCh37): ENSG00000106688
OMIM: 133550, Gene2Phenotype
SLC1A1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Only two families reported and mouse KO. Rated as LIMITED by ClinGen.
Sources: Expert Review
Created: 11 May 2022, 8:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dicarboxylic aminoaciduria, MIM#222730

Publications

Created: 11 May 2022, 8:42 a.m.

Panel version: 1.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Dicarboxylic aminoaciduria, MIM#222730
OMIM
133550
Clinvar variants
Variants in SLC1A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 May 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc1a1 has been classified as Amber List (Moderate Evidence).

11 May 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc1a1 has been classified as Amber List (Moderate Evidence).

11 May 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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