Congenital neutropaenia
Gene: SLC37A4EnsemblGeneIds (GRCh38): ENSG00000137700
EnsemblGeneIds (GRCh37): ENSG00000137700
OMIM: 602671, Gene2Phenotype
SLC37A4 is in 14 panels
3 reviews
Sophie Hambleton (Newcastle University)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
glycogen storage disease with or without neutropenia
Peter Arkwright (Royal Manchester Foundation Trust)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Two expert reviewers recommend Green, Found in 3/4 sources. Numerous variants reported in literature.Created: 25 May 2016, 9:49 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- Phenotypes
-
- Glycogen storage disease Ib 232220
- OMIM
- 602671
- Clinvar variants
- Variants in SLC37A4
- Penetrance
- Complete
- Publications
- 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
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SLC37A4 were set to Glycogen storage disease Ib 232220
Upload gene information
Sarah Leigh (Genomics England Curator)SLC37A4 was added to Congenital neutropaeniapanel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been removed from the panel.
Set publications
Sarah Leigh (Genomics England Curator)Publications for SLC37A4 were set to 12576310; 9428641; 10482962]
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SLC37A4 were set to Neutropenia Glycogen storage disease Ib, 232220
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for SLC37A4 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Peter Arkwright (Royal Manchester Foundation Trust)SLC37A4 was added to Congenital neutropaeniapanel. Sources: Literature