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Severe microcephaly

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

1 review

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
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

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