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  2. Hyperinsulinism
  3. EIF2S3
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Hyperinsulinism

Gene: EIF2S3

Red List (low 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)

Red List (low evidence)

Growth hormone deficiency, hypogonadism and hypoglycaemia but not specifically hyperinsulinism.
Created: 14 Feb 2020, 7:56 a.m. | Last Modified: 14 Feb 2020, 7:56 a.m.
Panel Version: 0.22

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

Phenotypes
MEHMO syndrome, MIM# 300148

Created: 14 Feb 2020, 7:56 a.m.
Last Modified: 14 Feb 2020, 7:56 a.m.
Panel version: 0.22

Details

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

History Filter Activity

14 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eif2s3 has been classified as Red List (Low Evidence).

14 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Feb 2020, Gel status: 1

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

14 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eif2s3 has been classified as Red List (Low Evidence).

17 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 Hyperinsulinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EIF2S3 was set to Unknown