Combined Immunodeficiency

Gene: SLC46A1

Green List (high evidence)

SLC46A1 (solute carrier family 46 member 1)
EnsemblGeneIds (GRCh38): ENSG00000076351
EnsemblGeneIds (GRCh37): ENSG00000076351
OMIM: 611672, Gene2Phenotype
SLC46A1 is in 13 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

Over 30 unrelated individuals reported with variants in SLC46A1 presenting with hereditary folate malabsorption; two mouse model.

In-frame deletion variant has been commonly reported among individuals of Puerto Rican heritage: c.1082-1G>A;
Other variants include homozygous and compound heterozygous deletions, insertion, missense and nonsense report in individuals of other origins (Chinese, Moroccan, Turkish, African American).

Clinically presents in infancy with failure to thrive, recurrent diarrhoea, anaemia, recurrent infections and, frequently, seizures.
Created: 11 Aug 2021, 11:45 p.m. | Last Modified: 11 Aug 2021, 11:45 p.m.
Panel Version: 0.309

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Folate malabsorption, hereditary MIM# 229050; Decreased Ig levels; megaloblastic anaemia; failure to thrive; Immunodeficiency; if untreated for prolonged periods results in intellectual disability; oral mucositis; hypoimmunoglobulinaemia; recurrent infections; seizures; motor impairment; leukopaenia; thrombocytopaenia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Folate malabsorption, hereditary MIM# 229050
  • Decreased Ig levels
  • megaloblastic anaemia
  • failure to thrive
  • Immunodeficiency
  • if untreated for prolonged periods results in intellectual disability
  • oral mucositis
  • hypoimmunoglobulinaemia
  • recurrent infections
  • seizures
  • motor impairment
  • leukopaenia
  • thrombocytopaenia
Tags
founder
OMIM
611672
Clinvar variants
Variants in SLC46A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc46a1 has been classified as Green List (High Evidence).

12 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC46A1 were changed from to Folate malabsorption, hereditary MIM# 229050; Decreased Ig levels; megaloblastic anaemia; failure to thrive; Immunodeficiency; if untreated for prolonged periods results in intellectual disability; oral mucositis; hypoimmunoglobulinaemia; recurrent infections; seizures; motor impairment; leukopaenia; thrombocytopaenia

12 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC46A1 were set to

12 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC46A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

12 Aug 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: SLC46A1.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC46A1 was added gene: SLC46A1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: SLC46A1 was set to Unknown