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Intellectual disability

Gene: EIF3F

Green List (high evidence)
EIF3F (eukaryotic translation initiation factor 3 subunit F)
EnsemblGeneIds (GRCh38): ENSG00000175390
EnsemblGeneIds (GRCh37): ENSG00000175390
OMIM: 603914, Gene2Phenotype
EIF3F is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Created: 19 Nov 2018, 1:39 p.m.
Created: 19 Nov 2018, 1:39 p.m.

Panel version: 2.545

Konstantinos Varvagiannis (Other)

Green List (high evidence)

EIF3F was identified in a recent DDD publication (PMID: 30409806) as a cause of autosomal recessive intellectual disability.

All 9 individuals reported were homozygous for a missense variant (Phe232Val - rs141976414) which has a frequency of 0.12% in non-Finnish Europeans.

Features included intellectual disability (9/9), seizures (6/9), behavioral problems (3/9) and sensorineural hearing loss (3/9). Facial features were not specific.

Extensive functional studies were performed and support pathogenicity of the variant in the homozygous state (reduced protein levels, reduced translation rate in line with the role of EIF3F encoding a subunit for eukaryotic translation initiation factor 3, as well as reduced proliferation rates).

As a result this gene can be considered for inclusion in this panel as green.
Sources: Literature, Expert Review
Created: 18 Nov 2018, 10:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; Seizures; Behavioral abnormality; Sensorineural hearing impairment

Publications

Created: 18 Nov 2018, 10:13 a.m.

Panel version: 2.535

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal recessive 67, OMIM:618295
OMIM
603914
Clinvar variants
Variants in EIF3F
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Jun 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EIF3F were changed from Intellectual disability; Seizures; Behavioral abnormality; Sensorineural hearing impairment to Mental retardation, autosomal recessive 67, OMIM:618295

19 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: eif3f has been classified as Green List (High Evidence).

18 Nov 2018, Gel status: 0

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

Konstantinos Varvagiannis (Other)

gene: EIF3F was added gene: EIF3F was added to Intellectual disability. Sources: Literature,Expert Review Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF3F were set to 30409806 Phenotypes for gene: EIF3F were set to Intellectual disability; Seizures; Behavioral abnormality; Sensorineural hearing impairment Penetrance for gene: EIF3F were set to Complete Review for gene: EIF3F was set to GREEN