1. Panels
  2. DEMO Diabetes neonatal onset
  3. EIF2S3
STRs in panel
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DEMO Diabetes neonatal onset

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 8 panels

2 reviews

Jayne Houghton (Royal Devon and Exeter Foundation Trust)

Green List (high evidence)

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

Phenotypes
diabetes; intellectual disability; microcephaly; epilepsy; hypogonadism; hypogenitalism; central obesity

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Jan 2019, 1:25 p.m.

Panel version: Imported from Diabetes - neonatal onset panel version 1.13

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH).
Created: 28 Jan 2019, 10:24 a.m.
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: EIF2S3; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: MEHMO syndrome (X-linked NDM and microcephaly).
Created: 11 Jan 2019, 4:27 p.m.
Created: 11 Jan 2019, 4:27 p.m.

Panel version: Imported from Diabetes - neonatal onset panel version 1.13

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
Phenotypes
  • diabetes
  • hypogonadism
  • MEHMO syndrome (X-linked NDM and microcephaly),300148
  • microcephaly
  • intellectual disability
  • epilepsy
  • central obesity
  • hypogenitalism
OMIM
300161
Clinvar variants
Variants in EIF2S3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: EIF2S3 was added gene: EIF2S3 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS 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 28055140 Phenotypes for gene: EIF2S3 were set to diabetes; hypogonadism; MEHMO syndrome (X-linked NDM and microcephaly),300148; microcephaly; intellectual disability; epilepsy; central obesity; hypogenitalism