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| Paediatric disorders - additional genes v7.28 | EIF3B | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are 14 unrelated individuals reported with monoallelic EIF3B variants and with a complex phenotype involving cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioral abnormalities. The phenotypes displayed do 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 14 unrelated individuals reported with monoallelic EIF3B variants and with a complex phenotype involving cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioural abnormalities. 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 | EIF3B | Achchuthan Shanmugasundram Classified gene: EIF3B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.28 | EIF3B | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are 14 unrelated individuals reported with monoallelic EIF3B variants and with a complex phenotype involving cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioral abnormalities. The phenotypes displayed do 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 v7.28 | EIF3B | Achchuthan Shanmugasundram Gene: eif3b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.27 | EIF3B | Achchuthan Shanmugasundram Tag Q1_26_promote_green tag was added to gene: EIF3B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.27 | EIF3B |
Achchuthan Shanmugasundram gene: EIF3B was added gene: EIF3B was added to Paediatric disorders - additional genes. Sources: Literature Mode of inheritance for gene: EIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF3B were set to 41033306 Phenotypes for gene: EIF3B were set to syndromic disease, MONDO:0002254 Review for gene: EIF3B was set to GREEN Added comment: PMID:41033306 (2025) reported 14 unrelated individuals with heterozygous de novo or loss-of-function variants in EIF3B gene. The clinical phenotype varied but predominantly included cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioral abnormalities. 11 of 14 individuals had congenital heart defect including four with tetralogy of Fallot, neurodevelopmental phenotype including developmental delay, speech and language delay, and mild or specific learning disabilities were reported in eight individuals. Behavioral abnormalities, including attention-deficit hyperactivity disorder and autism spectrum disorder, were also noted. Facial differences were observed in eleven individuals. While features varied, several individuals exhibited differences in the eye region that overlapped with those previously reported in individuals with 7q22.3 micro-deletions, including ptosis, arched eyebrows, downslanting palpebral fissures, hypertelorism, and epicanthal folds. Cleft lip and palate and hearing loss and/or inner and middle ear malformations were reported in four individuals each. Functional evidence was available from zebrafish model with mutations in the orthologous eif3ba 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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