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  2. Microcephaly
  3. EIF5A
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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 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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: 3 Mar 2021, 7:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Faundes-Banka syndrome, MIM# 619376; Intellectual disability; microcephaly; dysmorphism

Publications

Created: 3 Mar 2021, 7:38 a.m.

Panel version: 1.24

Details

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

History Filter Activity

10 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eif5a has been classified as Green List (High Evidence).

3 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eif5a has been classified as Green List (High Evidence).

3 Mar 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EIF5A was added gene: EIF5A was added to Microcephaly. 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