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Intellectual disability syndromic and non-syndromic

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

ID is part of the phenotype of this metabolic disorder. However, only two families reported and rated as LIMITED by ClinGen.
Created: 10 Dec 2019, 8:45 p.m. | Last Modified: 11 May 2022, 8:41 a.m.
Panel Version: 0.4763

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dicarboxylic aminoaciduria, MIM#222730

Publications

Details

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

History Filter Activity

23 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

10 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc1a1 has been classified as Green List (High Evidence).

10 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC1A1 were changed from to Dicarboxylic aminoaciduria, MIM#222730

10 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC1A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC1A1 was added gene: SLC1A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC1A1 was set to Unknown