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Fetal anomalies

Gene: SLC1A4

Amber List (moderate evidence)
SLC1A4 (solute carrier family 1 member 4)
EnsemblGeneIds (GRCh38): ENSG00000115902
EnsemblGeneIds (GRCh37): ENSG00000115902
OMIM: 600229, Gene2Phenotype
SLC1A4 is in 9 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Louise Carr (North Thames Genomic Medicine Service)

Green List (high evidence)

Associated with Spastic tetraplegia, thin corpus callosum, and progressive microcephaly #616657 (AR) in OMIM. 16 individuals reported with 4 different variants. 4 have progressive microcephaly reaching a head circumference <0.4th centile/beyond -3SD. One of the variants is a founder variant, E256K, found in the Ashkenazi Jewish population at a frequency estimated to be 0.7%. Also presented with severe global delay/intellectual disability.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, OMIM:616657; spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, MONDO:0014725

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, OMIM:616657
  • spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, MONDO:0014725
OMIM
600229
Clinvar variants
Variants in SLC1A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: SLC1A4 was added gene: SLC1A4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC1A4 were set to 25930971; 26138499; 37502193; 29989513; 27193218; 37194416; 31763347; 26041762; 34174466; 35605507 Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, OMIM:616657; spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, MONDO:0014725