Genomics England

solute carrier family 46 member 1

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	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 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HEREDITARY FOLATE MALABSORPTION (HFM)
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.78	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 4.123	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