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Fetal anomalies

Gene: EIF3F

Amber List (moderate 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

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Natalie Chandler (North Thames GLH)

I don't know

Green on epilepsy, ID & severe paediatric disorder panels. PMID:33736665 - 21 patients in 15 families all hom for same variant. 1/21 had oligohydramios. Short stature was observed in 40% of affected individuals at the last physical examination. Interestingly, four of the seven individuals with short stature at the last examination, had normal body length at birth. Microcephaly was common at the last physical examination (6/19; 32%), and microcephaly (4/10; 40%) or normocephaly (6/10; 60%) remained consistent between birth and the last measurement. Notably, the compound heterozygous individual of P3 was both short for age and microcephalic. Cleft lip and palate (P15), tetralogy of Fallot (P3) or combination (P5) of a groove of lip (considered a minor variant of cleft lip)and a nasal fistula were observed in a single individual each. Amber - pending isolated micorcephaly being ccepted for R21 eligibility
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder, autosomal recessive 67, OMIM:618295

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 67, OMIM:618295
OMIM
603914
Clinvar variants
Variants in EIF3F
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: EIF3F was added gene: EIF3F was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF3F were set to 33736665 Phenotypes for gene: EIF3F were set to Intellectual developmental disorder, autosomal recessive 67, OMIM:618295