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Intellectual disability syndromic and non-syndromic

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 6 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Hüffmeier et al (2021) reported 21 patients who were homozygous/compound heterozygous for Phe232Val variant in EIF3F. All affected individuals had developmental delay and speech delay. About half had behavioural problems, altered muscular tone, hearing loss, and short stature. The study suggests that microcephaly, reduced sensitivity to pain, cleft lip/palate, gastrointestinal symptoms and ophthalmological symptoms are part of the phenotypic spectrum.
Created: 1 Oct 2021, 5:03 a.m. | Last Modified: 1 Oct 2021, 5:03 a.m.
Panel Version: 0.4154

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
EIF3F-related neurodevelopmental disorder

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nine individuals from 7 families reported, all homozygous for the same missense variant, p.(Phe232Val). This variant is present at 0.12% frequency in non-Finnish Europeans in gnomad (no homozygotes).
Sources: Expert list
Created: 4 Jan 2020, 11:19 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 67, MIM# 618295

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mental retardation, autosomal recessive 67, MIM# 618295
OMIM
603914
Clinvar variants
Variants in EIF3F
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EIF3F were set to 30409806

4 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EIF3F was added gene: EIF3F was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list 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 Mental retardation, autosomal recessive 67, MIM# 618295 Review for gene: EIF3F was set to GREEN