Congenital Heart Defect
Gene: SLC37A4EnsemblGeneIds (GRCh38): ENSG00000137700
EnsemblGeneIds (GRCh37): ENSG00000137700
OMIM: 602671, Gene2Phenotype
SLC37A4 is in 18 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
7 patients from 4 families, additional to the two reported previously, described with the same recurrent c.1267C>T (p.R423*) variant with liver dysfunction multifactorial coagulation deficiency and cardiac issues. Serum samples from affected individuals showed profound accumulation of both high mannose and hybrid type N-glycans. Hepatoma cell-line studies support the pathogenicity of the variant.
Sources: LiteratureCreated: 7 Jun 2021, 5:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Congenital disorder of glycosylation; liver dysfunction; coagulation deficiency
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Congenital disorder of glycosylation
- liver dysfunction
- coagulation deficiency
- OMIM
- 602671
- Clinvar variants
- Variants in SLC37A4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Liver Failure_Paediatric
- Inflammatory bowel disease
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Vasculitis
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Congenital Disorders of Glycosylation
- Glycogen Storage Diseases
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Phagocyte Defects
- Mendeliome
- Cataract
- Prepair 500+
History Filter Activity
Entity classified by Genomics England curator
Sue White (Victorian Clinical Genetics Services)Gene: slc37a4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sue White (Victorian Clinical Genetics Services)Gene: slc37a4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: SLC37A4 was added gene: SLC37A4 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: SLC37A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC37A4 were set to 33964207 Phenotypes for gene: SLC37A4 were set to Congenital disorder of glycosylation; liver dysfunction; coagulation deficiency Review for gene: SLC37A4 was set to GREEN gene: SLC37A4 was marked as current diagnostic