Microcephaly
Gene: EIF2S3

EIF2S3 (eukaryotic translation initiation factor 2 subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000130741
EnsemblGeneIds (GRCh37): ENSG00000130741
OMIM: 300161, Gene2Phenotype
EIF2S3 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

9 families reported (3 had the same variant) with MEHMO syndrome (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity).
Created: 4 Sep 2020, 5:15 a.m. | Last Modified: 4 Sep 2020, 5:15 a.m.

Panel Version: 0.462

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
MEHMO syndrome, MIM# 300148

Publications

Created: 4 Sep 2020, 5:15 a.m.
Last Modified: 4 Sep 2020, 5:15 a.m.
Panel version: 0.462

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

MEHMO syndrome, MIM# 300148

OMIM

300161

Clinvar variants

Variants in EIF2S3

Penetrance

None

Publications

Panels with this gene