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Fetal anomalies

Gene: SLC2A2

Red List (low 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)

Red List (low evidence)

Presentation is typically with liver and renal dysfunction post-natally.
Created: 11 Apr 2021, 9:08 a.m. | Last Modified: 23 Feb 2022, 3:35 a.m.
Panel Version: 0.3933

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi-Bickel syndrome, MIM# 227810

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • 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

23 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc2a2 has been classified as Red List (Low Evidence).

23 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC2A2 was added gene: SLC2A2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC2A2 were set to FANCONI-BICKEL SYNDROME