SLC46A1

solute carrier family 46 member 1
OMIM: 611672, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green SLC46A1 in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Folate malabsorption, hereditary, MIM# 229050
Green SLC46A1 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Folate malabsorption, hereditary, MIM# 229050
Green SLC46A1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green 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
Green SLC46A1 in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	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
Green SLC46A1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Folate malabsorption, hereditary, MIM# 229050
Green SLC46A1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Folate malabsorption, hereditary, 229050 (3)
Green SLC46A1 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Folate malabsorption, hereditary
Green SLC46A1 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Folate malabsorption, hereditary, MIM# 229050
Red SLC46A1 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Folate malabsorption, hereditary, MIM# 229050
Green SLC46A1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Folate malabsorption, hereditary, 229050 (3)
Green SLC46A1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Folate malabsorption, hereditary, MIM# 229050 Tags treatable metabolic
Green SLC46A1 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Folate malabsorption, hereditary, MIM# 229050
Green SLC46A1 in Vitamin metabolism disorders Level 2: Metabolic disorders Version 2.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hereditary folate malabsorption MONDO:0009238 Disorders of folate metabolism