Hyperammonaemia
Gene: SLC37A4
SLC37A4 (solute carrier family 37 member 4)
EnsemblGeneIds (GRCh38): ENSG00000137700
EnsemblGeneIds (GRCh37): ENSG00000137700
OMIM: 602671, Gene2Phenotype
SLC37A4 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000137700
EnsemblGeneIds (GRCh37): ENSG00000137700
OMIM: 602671, Gene2Phenotype
SLC37A4 is in 14 panels
2 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease Ib
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 602671
- Clinvar variants
- Variants in SLC37A4
- Penetrance
- Complete
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Ketotic hypoglycaemia
- Glycogen storage disease
- Hyperammonaemia
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Undiagnosed metabolic disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenia - NOT Fanconi anaemia
History Filter Activity
22 Nov 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)SLC37A4 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory