Congenital disorders of glycosylation
Gene: SLC37A4EnsemblGeneIds (GRCh38): ENSG00000137700
EnsemblGeneIds (GRCh37): ENSG00000137700
OMIM: 602671, Gene2Phenotype
SLC37A4 is in 14 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 9:14 a.m. | Last Modified: 1 Feb 2023, 9:14 a.m.
Panel Version: 3.4
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Monoallelic variants in SLC37A4 are linked to a congenital disorder of glycosylation in OMIM (MIM# 619525) and G2P (definitive disease confidence).
At least 9 individuals from 6 unrelated families have been reported with the same heterozygous variant, c.1267C>T (p.Arg423∗), in SLC37A4. Affected subjects display a metabolic disorder characterised by liver dysfunction, coagulation deficiencies (but no signs of bleeding detected in most), and profound abnormalities in N-glycosylation of serum specific proteins.Created: 16 Jun 2022, 1:21 p.m. | Last Modified: 16 Jun 2022, 1:21 p.m.
Panel Version: 2.84
Zornitza Stark (Australian Genomics)
PMID 33964207: 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.Created: 11 Jun 2021, 8:34 a.m. | Last Modified: 11 Jun 2021, 8:34 a.m.
Panel Version: 2.70
Bi-allelic LOF variants in this gene cause glycogen storage disorder.
Single individual reported with heterozygous de novo variant in this gene. Clinical features included dysmorphic features (low set ears, a broad nose, mandibular micrognathia and facial asymmetry) and hepatopathy. The variant abolishes the ER retention signal of the transporter and generates a weak Golgi retention signal. Intracellular mislocalization of the transporter is postulated to lead to a congenital disorder of glycosylation instead of glycogen storage disease.
Sources: LiteratureCreated: 2 Nov 2020, 10:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital disorder of glycosylation
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Congenital disorder of glycosylation, type IIw, OMIM:619525
- OMIM
- 602671
- Clinvar variants
- Variants in SLC37A4
- Penetrance
- None
- 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
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_22_rating was removed from gene: SLC37A4.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to SLC37A4. Source NHS GMS was added to SLC37A4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: SLC37A4 were set to 32884905
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: slc37a4 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SLC37A4 were changed from Congenital disorder of glycosylation to Congenital disorder of glycosylation, type IIw, OMIM:619525
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_22_rating tag was added to gene: SLC37A4.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: SLC37A4 was added gene: SLC37A4 was added to Congenital disorders of glycosylation. Sources: Literature Mode of inheritance for gene: SLC37A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC37A4 were set to 32884905 Phenotypes for gene: SLC37A4 were set to Congenital disorder of glycosylation Review for gene: SLC37A4 was set to RED