Genomics England
GMS Panels
Panels
Genes and Entities

SLC46A1

solute carrier family 46 member 1
OMIM: 611672
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HEREDITARY FOLATE MALABSORPTION 229050
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HEREDITARY FOLATE MALABSORPTION (HFM)
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Folate malabsorption, hereditary, Hereditary folate malabsorption (Disorders of folate metabolism and transport)
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Folate malabsorption, hereditary 229050, Defects of Vitamin B12 and Folate metabolism, Congenital defect of folate absorption, Megaloblastic anemia, failure to thrive, if untreated for prolonged periods results in intellectual disability, Combined immunodeficiencies with associated or syndromic features