Newborns additional phenotypes panel 1
Gene: SLC37A4EnsemblGeneIds (GRCh38): ENSG00000137700
EnsemblGeneIds (GRCh37): ENSG00000137700
OMIM: 602671, Gene2Phenotype
SLC37A4 is in 14 panels
1 review
Mafalda Gomes (Genomics England Curator)
This gene does not have a MANE transcript. The transcript that will be used is ENST00000545985.5 (equivalent to RefSeq NM_001164277) as this is the most widely expressed isoform and is the one that authors use in publications and also ClinVar.Created: 27 Jul 2023, 12:48 p.m. | Last Modified: 27 Jul 2023, 1:08 p.m.
Panel Version: 0.43
The mechanism of pathogenicity is gain-of-function (GOF).Created: 1 Jun 2023, 2:39 p.m. | Last Modified: 1 Jun 2023, 2:39 p.m.
Panel Version: 0.29
PMID: 33964207 (7 individuals, 4 families), PMID: 32884905 (1 patient), PMID: 33728255 (1 patient) All same variant.Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.27
All reported patients carry the same pathogenic variant.Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.25
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Congenital disorder of glycosylation, type IIw
- Transcripts
-
- ENST00000545985.5
- NM_001164277
- OMIM
- 602671
- Clinvar variants
- Variants in SLC37A4
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- COVID-19 research
- Ketotic hypoglycaemia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Glycogen storage disease
- DDG2P
- Likely inborn error of metabolism
- Hyperammonaemia
- Gastrointestinal epithelial barrier disorders
- Childhood onset dystonia, chorea or related movement disorder
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Fetal anomalies
History Filter Activity
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Amber was added to SLC37A4. Added phenotypes Congenital disorder of glycosylation, type IIw for gene: SLC37A4 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Set transcript
Mafalda Gomes (Genomics England Curator)Transcript for gene SLC37A4 was changed from None to ENST00000545985.5; NM_001164277
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Green was added to SLC37A4. Added phenotypes Congenital disorder of glycosylation, type IIw for gene: SLC37A4 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Amber was added to SLC37A4. Added phenotypes Congenital disorder of glycosylation, type IIw for gene: SLC37A4 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added New Source, Set mode of pathogenicity, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Green was added to SLC37A4. Mode of pathogenicity for gene SLC37A4 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Congenital disorder of glycosylation, type IIw for gene: SLC37A4 Rating Changed from No List (delete) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Mafalda Gomes (Genomics England Curator)gene: SLC37A4 was added gene: SLC37A4 was added to Newborns additional phenotypes panel. Sources: Expert Review Removed Mode of inheritance for gene: SLC37A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC37A4 were set to Congenital disorder of glycosylation, type IIw