Severe microcephalyGene: EIF5A
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.
Created: 6 Apr 2021, 1:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability; microcephaly; dysmorphism
Gene: eif5a has been classified as Amber List (Moderate Evidence).
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