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Severe microcephaly

Gene: SLC1A4

No list

SLC1A4 (solute carrier family 1 member 4)
EnsemblGeneIds (GRCh38): ENSG00000115902
EnsemblGeneIds (GRCh37): ENSG00000115902
OMIM: 600229, Gene2Phenotype
SLC1A4 is in 8 panels

1 review

Zornitza Stark (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.
Sources: Expert list
Created: 3 Sep 2020, 8:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
OMIM
600229
Clinvar variants
Variants in SLC1A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SLC1A4 was added gene: SLC1A4 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC1A4 were set to 25930971; 26138499; 26041762; 27193218; 29989513 Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 Review for gene: SLC1A4 was set to GREEN