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Severe microcephaly

Gene: EIF2S3

No list

EIF2S3 (eukaryotic translation initiation factor 2 subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000130741
EnsemblGeneIds (GRCh37): ENSG00000130741
OMIM: 300161, Gene2Phenotype
EIF2S3 is in 8 panels

1 review

Zornitza Stark (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).
Sources: Expert list
Created: 4 Sep 2020, 8:56 a.m.

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

Phenotypes
MEHMO syndrome, MIM# 300148

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
Phenotypes
  • MEHMO syndrome, MIM# 300148
OMIM
300161
Clinvar variants
Variants in EIF2S3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: EIF2S3 was added gene: EIF2S3 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: EIF2S3 were set to 23063529; 27333055; 28055140; 32799315 Phenotypes for gene: EIF2S3 were set to MEHMO syndrome, MIM# 300148 Review for gene: EIF2S3 was set to GREEN