Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: EIF4A3

Green List (high evidence)

EIF4A3 (eukaryotic translation initiation factor 4A3)
EnsemblGeneIds (GRCh38): ENSG00000141543
EnsemblGeneIds (GRCh37): ENSG00000141543
OMIM: 608546, Gene2Phenotype
EIF4A3 is in 7 panels

3 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : 5 or 3UTR mutation
Created: 27 Jul 2017, 5:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Louise Daugherty (Genomics England Curator)

Comment on list classification: changed from Amber to Green from external expert review and further publications to support gene-disease association.
Created: 9 Aug 2018, 4:21 p.m.
Comment on publications: Added publications to support gene-disease association
Created: 9 Aug 2018, 4:03 p.m.
Comment on phenotypes: added alternative name Richieri-Costa-Pereira syndrome. Cases display a unique pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of mandible, cleft palate/Robin sequence, absence of central lower incisors, minor ears anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability is also a common finding PMID:23376982
Created: 9 Aug 2018, 4:01 p.m.
added nucleotide-repeat-expansion tag
Created: 9 Aug 2018, 3:58 p.m.
from Sarah Leigh 14 Sep 2016, 10:25 a.m. Deafness and congenital structural abnormalities panel : Associated with phenotype in OMIM and G2P / DD. One nucleotide repeat expansion variant in 5'UTR reported in 21 affected individuals from 18 Brazilian families. Two further nucleotide repeat expansion variants and one missense variant reported. Animal model supports involvement of this gene in development of craniofacial anomalies.
Created: 9 Aug 2018, 3:45 p.m.
Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 11:14 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Robin sequence with cleft mandible and limb anomalies, 268305
  • Richieri-Costa-Pereira syndrome
  • intellectual disability
Tags
nucleotide-repeat-expansion
OMIM
608546
Clinvar variants
Variants in EIF4A3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to EIF4A3.

9 Aug 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: EIF4A3 were set to Robin sequence with cleft mandible and limb anomalies, 268305; Richieri-Costa-Pereira syndrome; intellectual disability

9 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: eif4a3 has been classified as Green List (High Evidence).

9 Aug 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: EIF4A3 were set to 25529582; 24360810; 29112243; 21271648; 23376982

9 Aug 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: EIF4A3 were set to 25529582; 24360810; 29112243; 21271648; 23376982

9 Aug 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: EIF4A3 were set to 25529582; 24360810; 29112243; 21271648

9 Aug 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: EIF4A3 were set to 25529582; 24360810; 29112243

9 Aug 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: EIF4A3 were set to Robin sequence with cleft mandible and limb anomalies, 268305; Richieri-Costa-Pereira syndrome

9 Aug 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: EIF4A3 were set to Robin sequence with cleft mandible and limb anomalies, 268305; Richieri-Costa-Pereira syndrome

9 Aug 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: EIF4A3 were set to 25529582; 24360810

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

EIF4A3 was created by BRIDGE

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

EIF4A3 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene