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  3. EIF5A
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Fetal anomalies

Gene: EIF5A

Green List (high evidence)
EIF5A (eukaryotic translation initiation factor 5A)
EnsemblGeneIds (GRCh38): ENSG00000132507
EnsemblGeneIds (GRCh37): ENSG00000132507
OMIM: 600187, Gene2Phenotype
EIF5A is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Created: 2 Nov 2021, 4:49 p.m. | Last Modified: 2 Nov 2021, 4:49 p.m.
Panel Version: 1.761
Created: 2 Nov 2021, 4:49 p.m.
Last Modified: 2 Nov 2021, 4:49 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Details of review:
Faundes et al 2021 (PMID: 33547280) report this as a novel disease gene associated with micrognathia, microcephaly, IUGR and Kabuki-like phenotype. Now on OMIM as of August 2021. 7 unrelated patients in this publication.
Sources: Literature, Expert Review
Created: 29 Oct 2021, 3:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Faundes-Banka syndrome

Publications

Created: 29 Oct 2021, 3:36 p.m.

Panel version: 1.749

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Faundes-Banka syndrome, OMIM:619376
OMIM
600187
Clinvar variants
Variants in EIF5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating was removed from gene: EIF5A.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to EIF5A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

2 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: eif5a has been classified as Amber List (Moderate Evidence).

2 Nov 2021, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: EIF5A were set to PMID: 33547280

2 Nov 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EIF5A were changed from Faundes-Banka syndrome to Faundes-Banka syndrome, OMIM:619376

2 Nov 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: EIF5A.

29 Oct 2021, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: EIF5A was added gene: EIF5A was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF5A were set to PMID: 33547280 Phenotypes for gene: EIF5A were set to Faundes-Banka syndrome Review for gene: EIF5A was set to GREEN