Glycogen Storage Diseases
Gene: SLC37A4EnsemblGeneIds (GRCh38): ENSG00000137700
EnsemblGeneIds (GRCh37): ENSG00000137700
OMIM: 602671, Gene2Phenotype
SLC37A4 is in 18 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
>5 patients previously reported with glycogen storage diseaseCreated: 22 Jul 2020, 6:59 a.m. | Last Modified: 22 Jul 2020, 6:59 a.m.
Panel Version: 0.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease Ib (MIM#232220); Glycogen storage disease Ic (MIM#232240)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Glycogen storage disease Ib (MIM#232220)
- Glycogen storage disease Ic (MIM#232240)
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc37a4 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC37A4 were changed from to Glycogen storage disease Ib (MIM#232220); Glycogen storage disease Ic (MIM#232240)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SLC37A4 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SLC37A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC37A4 was added gene: SLC37A4 was added to Glycogen Storage Diseases_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC37A4 was set to Unknown