Miscellaneous Metabolic Disorders
Gene: SLC46A1EnsemblGeneIds (GRCh38): ENSG00000076351
EnsemblGeneIds (GRCh37): ENSG00000076351
OMIM: 611672, Gene2Phenotype
SLC46A1 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate deficiency that appear within a few months after birth. Infants exhibit low blood and cerebrospinal fluid folate levels with megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits. Treatment with folate supplementation results in resolution of the signs and symptoms. The disorder is caused by impaired intestinal folate absorption and impaired transport of folate into the central nervous system.
More than 5 unrelated families reported.
Sources: Expert listCreated: 6 Feb 2021, 3:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Folate malabsorption, hereditary, MIM# 229050
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Folate malabsorption, hereditary, MIM# 229050
- OMIM
- 611672
- Clinvar variants
- Variants in SLC46A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Vitamin metabolism disorders
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- Brain Calcification
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc46a1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc46a1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC46A1 was added gene: SLC46A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC46A1 were set to 17446347; 17129779; 21333572 Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, MIM# 229050 Review for gene: SLC46A1 was set to GREEN