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  2. Monogenic Diabetes
  3. EIF2S3
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Monogenic Diabetes

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

Hali Van Niel (University of Melbourne)

Green List (high evidence)

Established gene disease association with MEHMO syndrome, diabetes known assosciation with syndrome

28055140: two unrelated patients with diabetes at 10months onset
9781023: one patient with diabetes at 6 months
32799315: diabetes at 9 years
35765291: diabetes at 2 months
Created: 21 May 2024, 6:57 a.m. | Last Modified: 21 May 2024, 6:57 a.m.
Panel Version: 0.125

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

Phenotypes
MEHMO syndrome MONDO:0010258

Publications

Created: 21 May 2024, 6:57 a.m.
Last Modified: 21 May 2024, 6:57 a.m.
Panel version: 0.125

Details

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

History Filter Activity

17 Jan 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EIF2S3 was added gene: EIF2S3 was added to Monogenic diabetes. 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 microcephaly; MEHMO syndrome (X-linked NDM and microcephaly),300148; diabetes; epilepsy; hypogonadism; intellectual disability; hypogenitalism; central obesity