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Intellectual disability syndromic and non-syndromic

Gene: EIF3I

Amber List (moderate evidence)

EIF3I (eukaryotic translation initiation factor 3 subunit I)
EnsemblGeneIds (GRCh38): ENSG00000084623
EnsemblGeneIds (GRCh37): ENSG00000084623
OMIM: 603911, Gene2Phenotype
EIF3I is in 2 panels

1 review

Mark Cleghorn (Royal Melbourne Hospital)

I don't know

Marcello Scala, Genoa
ESHG presentation 4/6/24, unpublished

De novo EIF3I missense variants as a cause for novel NDD syndrome

EIF3 complex involved in regulating initiation of mRNA translation
Negative regulator of the TGF beta pathway

8 individuals from 8 families
Mod/severe GDD or ID
Short stature
Midline brain anomalies (hypoplasia/agenesis of corpus callosum and pituitary hypoplasia)
Frontal bossing, hypertelorism, long philtrum
All w rare de novo missense variants om EIF3I, clustering within highly conserved WD repeats

Functional studies
Transfected HEK293 cell studies suggested EIF3I protein from variant alleles (from patients above) had disrupted interaction with other EIF subunits, and cells had reduced protein synthesis overall
No animal models
Sources: Other
Created: 10 Sep 2024, 3:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
complex neurodevelopmental disorder MONDO:0100038

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038
OMIM
603911
Clinvar variants
Variants in EIF3I
Penetrance
unknown
Panels with this gene

History Filter Activity

11 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: eif3i has been classified as Amber List (Moderate Evidence).

11 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: eif3i has been classified as Amber List (Moderate Evidence).

11 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: eif3i has been classified as Amber List (Moderate Evidence).

10 Sep 2024, Gel status: 0

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

Mark Cleghorn (Royal Melbourne Hospital)

gene: EIF3I was added gene: EIF3I was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: EIF3I was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EIF3I were set to complex neurodevelopmental disorder MONDO:0100038 Penetrance for gene: EIF3I were set to unknown Review for gene: EIF3I was set to AMBER