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Newborns main panel

Gene: EIF2S3

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 35765291 - 1 family PMID: 32799315 - 15 cases, most from the literature
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
David and Katrina both agree with XLR.
Created: 27 Mar 2023, 9:59 a.m. | Last Modified: 27 Mar 2023, 9:59 a.m.
Panel Version: 0.46
Created: 27 Mar 2023, 9:59 a.m.
Last Modified: 27 Mar 2023, 9:59 a.m.
Panel version: 0.137

Details

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

History Filter Activity

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes MEHMO syndrome for gene: EIF2S3

14 Jul 2023, Gel status: 2

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

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

5 Jul 2023, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to EIF2S3. Mode of inheritance for gene EIF2S3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BIALLELIC, autosomal or pseudoautosomal Added phenotypes MEHMO syndrome for gene: EIF2S3 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to EIF2S3. Added phenotypes MEHMO syndrome for gene: EIF2S3 Rating Changed from No List (delete) to Red List (low evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: EIF2S3 was added gene: EIF2S3 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females