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  2. Renal Tubulopathies and related disorders
  3. SLC1A1
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Renal Tubulopathies and related 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

Chirag Patel (Genetic Health Queensland)

I don't know

Only two families reported and mouse KO. Rated as LIMITED by ClinGen.
Created: 2 Dec 2022, 12:24 a.m. | Last Modified: 2 Dec 2022, 12:24 a.m.
Panel Version: 0.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dicarboxylic aminoaciduria, MIM# 222730

Publications

Created: 2 Dec 2022, 12:24 a.m.
Last Modified: 2 Dec 2022, 12:24 a.m.
Panel version: 0.16

Details

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

History Filter Activity

1 Dec 2022, Gel status: 2

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 Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Amber 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