Microcephaly
Gene: SLC1A4

SLC1A4 (solute carrier family 1 member 4)
EnsemblGeneIds (GRCh38): ENSG00000115902
EnsemblGeneIds (GRCh37): ENSG00000115902
OMIM: 600229, Gene2Phenotype
SLC1A4 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is an autosomal recessive neurodevelopmental disorder characterized by onset of those features and severely impaired global development in early infancy. Most patients are unable to achieve independent walking or speech; some patients have seizures. Multiple affected families reported. Note founder variant p.Glu256Lys is a common founder variant in the Ashkenazi Jewish population.
Created: 3 Sep 2020, 8:07 a.m. | Last Modified: 3 Sep 2020, 8:07 a.m.

Panel Version: 0.421

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657

Publications

Created: 3 Sep 2020, 8:07 a.m.
Last Modified: 3 Sep 2020, 8:07 a.m.
Panel version: 0.421

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
MONDO:0014725

Tags

founder

OMIM

600229

Clinvar variants

Variants in SLC1A4

Penetrance

None

Publications

Panels with this gene