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Intellectual disability syndromic and non-syndromic

Gene: SLC2A2

Amber List (moderate evidence)

SLC2A2 (solute carrier family 2 member 2)
EnsemblGeneIds (GRCh38): ENSG00000163581
EnsemblGeneIds (GRCh37): ENSG00000163581
OMIM: 138160, Gene2Phenotype
SLC2A2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Presentation is typically with liver and renal dysfunction, ID is not a consistent/prominent feature.
Created: 11 Apr 2021, 9:08 a.m. | Last Modified: 11 Apr 2021, 9:08 a.m.
Panel Version: 0.3629

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi-Bickel syndrome, MIM# 227810

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Fanconi-Bickel syndrome, MIM# 227810
OMIM
138160
Clinvar variants
Variants in SLC2A2
Penetrance
None
Panels with this gene

History Filter Activity

11 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc2a2 has been classified as Amber List (Moderate Evidence).

11 Apr 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC2A2 were changed from to Fanconi-Bickel syndrome, MIM# 227810

11 Apr 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC2A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

11 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc2a2 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC2A2 was added gene: SLC2A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC2A2 was set to Unknown