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Fetal anomalies

Gene: SLC13A1

Amber List (moderate evidence)
SLC13A1 (solute carrier family 13 member 1)
EnsemblGeneIds (GRCh38): ENSG00000081800
EnsemblGeneIds (GRCh37): ENSG00000081800
OMIM: 606193, Gene2Phenotype
SLC13A1 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Samantha Doyle (The National Maternity Hospital)

I don't know

PMID: 39925707 Discusses 5 children from 4 families with abnormal skeletal findings and biallelic variants on SLC13A1. The children have skeletal abnormalities on radiology but they presented in ealry childhood. One child had a chiari 1 malformation and ventriculomegaly along with an ASD. These abnormalities were not seen in the other children and as such it is unclear if these are feratures of this condition. the skeletal abnormalities include: kyphosis, scoliosis, wedge shaped vertebral bodies, non-ossification of capital femoral bodies. the children presented with symptoms in childhood. for now, I don't believe there is enough to say there is a prenatal phenotype.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
short stature, scoliosis, and skeletal dysplasia

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • short stature, scoliosis, and skeletal dysplasia
OMIM
606193
Clinvar variants
Variants in SLC13A1
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes short stature, scoliosis, and skeletal dysplasia for gene: SLC13A1

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: SLC13A1 was added gene: SLC13A1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: SLC13A1 was set to BIALLELIC, autosomal or pseudoautosomal