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Red cell disorders

Gene: SLC2A1

Green List (high evidence)
SLC2A1 (solute carrier family 2 member 1)
EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 18 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

1 pedigree AND 3 independent individuals reported; mono-allelic (deletion and substitution) variants identified.

Stomatin-deficient cryohydrocytosis with neurologic defects is characterised by delayed psychomotor development, seizures, cataracts, and pseudohyperkalaemia resulting from defects in the red blood cell membrane. The disorder combines the neurologic features (seen in GLUT1DS1 patients) and haemolytic anaemia/ pseudohyperkalaemia with stomatocytosis, resulting from a cation leak in erythrocytes. Other features include hypertonia, splenomegaly, microcephaly and nystagmus.
Created: 9 Sep 2021, 4:48 a.m. | Last Modified: 9 Sep 2021, 4:48 a.m.
Panel Version: 0.81

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Stomatin-deficient cryohydrocytosis with neurologic defects MIM# 608885; delayed psychomotor development, seizures, cataracts, pseudohyperkalaemia; haemolytic anaemia

Publications

Created: 9 Sep 2021, 4:48 a.m.
Last Modified: 9 Sep 2021, 4:48 a.m.
Panel version: 0.81

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Stomatin-deficient cryohydrocytosis with neurologic defects MIM# 608885
  • delayed psychomotor development, seizures, cataracts, pseudohyperkalaemia
  • haemolytic anaemia
OMIM
138140
Clinvar variants
Variants in SLC2A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc2a1 has been classified as Green List (High Evidence).

9 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC2A1 were changed from Stomatocytosis; 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia; 608885 Stomatin-deficient cryohydrocytosis with neurologic defects; Pyridoxine-refractory sideroblastic anemia to Stomatin-deficient cryohydrocytosis with neurologic defects MIM# 608885; delayed psychomotor development, seizures, cataracts, pseudohyperkalaemia; haemolytic anaemia

9 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC2A1 were set to 22492876; 21791420

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Stomatocytosis; 608885 Stomatin-deficient cryohydrocytosis with neurologic defects; 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia; Pyridoxine-refractory sideroblastic anemia for gene: SLC2A1

15 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC2A1 was added gene: SLC2A1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC2A1 were set to 22492876; 21791420 Phenotypes for gene: SLC2A1 were set to 608885 Stomatin-deficient cryohydrocytosis with neurologic defects; Pyridoxine-refractory sideroblastic anemia; 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia; Stomatocytosis