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Intellectual disability

Gene: EIF5A

Amber List (moderate evidence)

EIF5A (eukaryotic translation initiation factor 5A)
EnsemblGeneIds (GRCh38): ENSG00000132507
EnsemblGeneIds (GRCh37): ENSG00000132507
OMIM: 600187, Gene2Phenotype
EIF5A is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is enough evidence to rate this gene Green at the next review - PMID: 33547280 (2021) reports 7 unrelated individuals with different de novo heterozygous variants in the EIF5A gene. All were affected by variable degrees of DD and/or ID, mostly within the moderate severity range. Other features such as microcephaly and craniofacial dysmorphism were prominent but overall, the phenotype is best represented by this panel. Supportive functional data included.

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'
Created: 6 Apr 2021, 11:15 a.m. | Last Modified: 6 Apr 2021, 11:15 a.m.
Panel Version: 3.993

Zornitza Stark (Australian Genomics)

Green List (high evidence)

7 unrelated individuals reported with de novo variants in this gene and variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism.
Sources: Literature
Created: 5 Mar 2021, 6:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; microcephaly; dysmorphism

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • microcephaly
  • dysmorphism
Tags
Q2_21_rating
OMIM
600187
Clinvar variants
Variants in EIF5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Apr 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: EIF5A.

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).

5 Mar 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: EIF5A was added gene: EIF5A was added to Intellectual disability. Sources: Literature 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