Microcephaly
Gene: SLC1A4
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
Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; MONDO:0014725
Gene: slc1a4 has been classified as Green List (High Evidence).
Phenotypes for gene: SLC1A4 were changed from to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
Publications for gene: SLC1A4 were set to
Tag founder tag was added to gene: SLC1A4.
Mode of inheritance for gene: SLC1A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: SLC1A4 was added gene: SLC1A4 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC1A4 was set to Unknown