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Intellectual disability

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 2 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in 2 unrelated cases (PMID 21123949), a SLC1A1 null mouse model with age-dependent chronic neurodegeneration (PMID 16311588), together with historic reports of intellectual disability associated with the phenotype (PMID 894411).
Created: 29 Jun 2020, 4:35 p.m. | Last Modified: 29 Jun 2020, 4:35 p.m.
Panel Version: 3.110
There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 29 Jun 2020, 4:34 p.m. | Last Modified: 29 Jun 2020, 4:34 p.m.
Panel Version: 3.109

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
  • Expert Review Amber
Phenotypes
  • Dicarboxylic aminoaciduria 222730
Tags
for-review
OMIM
133550
Clinvar variants
Variants in SLC1A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jun 2020, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC1A1 were set to 21123949; 16311588; 16311588

29 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

29 Jun 2020, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

29 Jun 2020, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: SLC1A1.

29 Jun 2020, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

29 Jun 2020, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC1A1 were set to 21123949; 21123949

29 Jun 2020, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC1A1 were set to Dicarboxylic aminoaciduria, MIM#222730

29 Jun 2020, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

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