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Intellectual disability syndromic and non-syndromic

Gene: EIF2S3

Green List (high evidence)

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, 8:56 a.m. | Last Modified: 4 Sep 2020, 8:56 a.m.
Panel Version: 0.2955

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
  • Expert Review Green
  • Genetic Health Queensland
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: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eif2s3 has been classified as Green List (High Evidence).

4 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EIF2S3 were changed from to MEHMO syndrome, MIM# 300148

4 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EIF2S3 were set to

4 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: EIF2S3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EIF2S3 was added gene: EIF2S3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EIF2S3 was set to Unknown