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  3. EIF4A2
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Dystonia - complex

Gene: EIF4A2

Green List (high evidence)
EIF4A2 (eukaryotic translation initiation factor 4A2)
EnsemblGeneIds (GRCh38): ENSG00000156976
EnsemblGeneIds (GRCh37): ENSG00000156976
OMIM: 601102, Gene2Phenotype
EIF4A2 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related

Created: 31 Jul 2023, 10:23 a.m.
Last Modified: 31 Jul 2023, 10:23 a.m.
Panel version: 0.226

Shekeeb Mohammad (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 30 Jul 2023, 4:11 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
DYSTONIA; TREMOR

Publications

Created: 30 Jul 2023, 4:11 p.m.

Panel version: 0.226

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455
OMIM
601102
Clinvar variants
Variants in EIF4A2
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

2 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EIF4A2 were changed from Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related to Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455

31 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eif4a2 has been classified as Green List (High Evidence).

31 Jul 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EIF4A2 were changed from DYSTONIA; TREMOR to Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related

31 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eif4a2 has been classified as Green List (High Evidence).

30 Jul 2023, Gel status: 0

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

Shekeeb Mohammad (Children's Hospital at Westmead)

gene: EIF4A2 was added gene: EIF4A2 was added to Dystonia - complex. Sources: Literature Mode of inheritance for gene: EIF4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF4A2 were set to 37485550 Phenotypes for gene: EIF4A2 were set to DYSTONIA; TREMOR Penetrance for gene: EIF4A2 were set to unknown Review for gene: EIF4A2 was set to GREEN