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  2. Severe microcephaly
  3. EIF5A
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Severe microcephaly

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

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
Created: 10 Mar 2022, 1:37 p.m.
Last Modified: 10 Mar 2022, 1:37 p.m.
Panel version: 2.292

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

EIF5A is currently not associated with any phenotype in OMIM (last edited on 18/07/2019), but is listed in Gene2Phenotype with a 'probable' disease confidence rating for 'EIF5A-related craniofacial-neurodevelopmental disorder'

- PMID: 33547280 (2021) reports 7 unrelated individuals with different de novo heterozygous variants in the EIF5A gene. Microcephaly was evident at birth in 3/5 individuals, and assessments in later life indicated microcephaly in 5/7 cases (HC ranging between -1.94 and -7.47 SD). Other features include DD/ID and craniofacial dysmorphism, including micrognathia. Supportive functional data included.

Overall sufficient (>3) unrelated cases of microcephaly in patients with EIF5A variants, for inclusion on this panel.
Sources: Literature
Created: 6 Apr 2021, 1:43 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; microcephaly; dysmorphism

Publications

Created: 6 Apr 2021, 1:43 p.m.

Panel version: 2.109

Details

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

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating was removed from gene: EIF5A.

10 Mar 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (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

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EIF5A were changed from Intellectual disability; microcephaly; dysmorphism to Faundes-Banka syndrome, OMIM:619376

6 Apr 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).

6 Apr 2021, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: EIF5A was added gene: EIF5A was added to Severe microcephaly. Sources: Literature Q2_21_rating tags were added to gene: EIF5A. Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF5A were set to 33547280 Phenotypes for gene: EIF5A were set to Intellectual disability; microcephaly; dysmorphism Review for gene: EIF5A was set to GREEN