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| Intellectual disability v6.11 | EIF4A2 | Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: EIF4A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.11 | EIF4A2 | Sarah Leigh commented on gene: EIF4A2: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.10 | EIF4A2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to EIF4A2. Source NHS GMS was added to EIF4A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v5.191 | EIF4A2 | Sarah Leigh Classified gene: EIF4A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.191 | EIF4A2 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rating Green at the major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.191 | EIF4A2 | Sarah Leigh Gene: eif4a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.190 | EIF4A2 |
Sarah Leigh gene: EIF4A2 was added gene: EIF4A2 was added to Intellectual disability - microarray and sequencing. Sources: Literature Q3_23_promote_green tags were added to gene: EIF4A2. Mode of inheritance for gene: EIF4A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EIF4A2 were set to 36528028 Phenotypes for gene: EIF4A2 were set to Neurodevelopmental disorder Review for gene: EIF4A2 was set to GREEN Added comment: EIF4A2 has not been associated with a phenotype in OMIM, Gen2Phen or Mondo at the time of reporting. PMID: 36528028 reports the findings of an international collaboration through Matchmaker Exchange, where EIF4A2 variants are found in cases with neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. A total of 15 EIF4A2 variants have been reported in PMID: 36528028, with 12 variants occurring as de novo monoallelic in 12 individuals and 3 as biallelic in two unrelated cases (one as homozygote and the other as compound heterozygous). Severe intellectual was seen in 6/10 unrelated cases where an assessment was made, epilepsy was evident in 10/14 unrelated cases and 13/14 cases had hyptonia. Functional studies were also presented and it would appear that both loss and gain functions maybe associated with EIF4A2 variants. Sources: Literature |
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