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  2. Clefting disorders
  3. EIF3F
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Clefting disorders

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

1 review

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.
Sources: Literature
Created: 1 Oct 2021, 5:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
EIF3F-related neurodevelopmental disorder

Publications

Created: 1 Oct 2021, 5:04 a.m.

Panel version: 0.140

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • EIF3F-related neurodevelopmental disorder
  • 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

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EIF3F were changed from EIF3F-related neurodevelopmental disorder to EIF3F-related neurodevelopmental disorder; Mental retardation, autosomal recessive 67, MIM# 618295

1 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

1 Oct 2021, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: EIF3F was added gene: EIF3F was added to Clefting disorders. Sources: Literature Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF3F were set to PMID: 33736665 Phenotypes for gene: EIF3F were set to EIF3F-related neurodevelopmental disorder Review for gene: EIF3F was set to GREEN