Activity
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| Paediatric disorders - additional genes v7.35 | EIF3A | Ida Ertmanska Tag gene-checked tag was added to gene: EIF3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.28 | EIF3A | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are four unrelated individuals reported with monoallelic EIF3A variants and with a complex phenotype involving mild developmental/ speech delays, cardiac anomalies and craniofacial dysmorphism. The phenotypes displayed does not fit into the scope of intellectual disability panel, but fits into the scope of R27 Paediatric disorders super panel. Hence, this gene should be promoted to green rating on this panel in the next GMS update.; to: Comment on list classification: There are four unrelated individuals reported with monoallelic EIF3A variants and with a complex phenotype involving mild developmental/ speech delays, cardiac anomalies and craniofacial dysmorphism. The phenotypes displayed do not fit into the scope of intellectual disability panel, but fit into the scope of R27 Paediatric disorders super panel. Hence, this gene should be promoted to green rating on this panel in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.28 | EIF3A |
Achchuthan Shanmugasundram changed review comment from: PMID:41033306 (2025) reported four unrelated individuals identified with heterozygous loss-of-function variants in EIF3A gene (2.58 kpb intragenic deletion, p.Glu99Lysfs*3, p.Cys404Ter & p.Arg1030Ter). The phenotypes were varied, but included cardiac defects, craniofacial dysmorphisms and mild developmental delays. Cardiac features: Two individuals presented with tetralogy of Fallot, a third individual had a perimembranous VSD, ASD, and patent foramen ovale and the fourth individual presented with VSD, right-sided aortic arch, and a vascular ring. Neurodevelopmental features: One individual had a history of speech and language delays but is currently within normal limits. Another was suspected of having a learning difficulty, although all developmental milestones were met. Third exhibited mild articulation issues, and fourth was reported to have a developmental delay. Seizures were reported in one of these individuals. This gene has been associated with relevant phenotypes in Gene2Phenotype (with 'moderate' rating on the DD panel), but not yet in OMIM (last accessed 06 January 2026). Sources: Literature; to: PMID:41033306 (2025) reported four unrelated individuals identified with heterozygous loss-of-function variants in EIF3A gene (2.58 kpb intragenic deletion, p.Glu99Lysfs*3, p.Cys404Ter & p.Arg1030Ter). The phenotypes were varied, but included cardiac defects, craniofacial dysmorphisms and mild developmental delays. Cardiac features: Two individuals presented with tetralogy of Fallot, a third individual had a perimembranous VSD, ASD, and patent foramen ovale and the fourth individual presented with VSD, right-sided aortic arch, and a vascular ring. Neurodevelopmental features: One individual had a history of speech and language delays but is currently within normal limits. Another was suspected of having a learning difficulty, although all developmental milestones were met. Third exhibited mild articulation issues, and fourth was reported to have a developmental delay. Seizures were reported in one of these individuals. Functional evidence was available from zebrafish model with mutations in the orthologous eif3s10 gene, which resulted in developmental abnormalities, including thin heart tubes, lack of craniofacial cartilage, and embryonic lethality. This gene has been associated with relevant phenotypes in Gene2Phenotype (with 'moderate' rating on the DD panel), but not yet in OMIM (last accessed 06 January 2026). Sources: Literature |
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| Paediatric disorders - additional genes v7.26 | EIF3A | Achchuthan Shanmugasundram Classified gene: EIF3A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.26 | EIF3A | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated individuals reported with monoallelic EIF3A variants and with a complex phenotype involving mild developmental/ speech delays, cardiac anomalies and craniofacial dysmorphism. The phenotypes displayed does not fit into the scope of intellectual disability panel, but fits into the scope of R27 Paediatric disorders super panel. Hence, this gene should be promoted to green rating on this panel in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.26 | EIF3A | Achchuthan Shanmugasundram Gene: eif3a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.25 | EIF3A | Achchuthan Shanmugasundram Tag Q1_26_promote_green tag was added to gene: EIF3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.25 | EIF3A |
Achchuthan Shanmugasundram gene: EIF3A was added gene: EIF3A was added to Paediatric disorders - additional genes. Sources: Literature Mode of inheritance for gene: EIF3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF3A were set to 41033306 Phenotypes for gene: EIF3A were set to syndromic disease, MONDO:0002254 Review for gene: EIF3A was set to GREEN Added comment: PMID:41033306 (2025) reported four unrelated individuals identified with heterozygous loss-of-function variants in EIF3A gene (2.58 kpb intragenic deletion, p.Glu99Lysfs*3, p.Cys404Ter & p.Arg1030Ter). The phenotypes were varied, but included cardiac defects, craniofacial dysmorphisms and mild developmental delays. Cardiac features: Two individuals presented with tetralogy of Fallot, a third individual had a perimembranous VSD, ASD, and patent foramen ovale and the fourth individual presented with VSD, right-sided aortic arch, and a vascular ring. Neurodevelopmental features: One individual had a history of speech and language delays but is currently within normal limits. Another was suspected of having a learning difficulty, although all developmental milestones were met. Third exhibited mild articulation issues, and fourth was reported to have a developmental delay. Seizures were reported in one of these individuals. This gene has been associated with relevant phenotypes in Gene2Phenotype (with 'moderate' rating on the DD panel), but not yet in OMIM (last accessed 06 January 2026). Sources: Literature |
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