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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HEREDITARY FOLATE MALABSORPTION 229050
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Folate malabsorption, hereditary, Hereditary folate malabsorption (Disorders of folate metabolism and transport)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HEREDITARY FOLATE MALABSORPTION (HFM)
R-numbers: R15
Signed-off version 2.1
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