| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hydrocephalus v2.127 | EEF2 | Ivone Leong Tag Q2_21_rating was removed from gene: EEF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v2.127 | EEF2 | Sarah Leigh commented on gene: EEF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v2.126 | EEF2 |
Ivone Leong Source Expert Review Green was added to EEF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hydrocephalus v2.11 | EEF2 | Eleanor Williams Tag Q2_21_rating tag was added to gene: EEF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v2.11 | EEF2 | Eleanor Williams Classified gene: EEF2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v2.11 | EEF2 | Eleanor Williams Added comment: Comment on list classification: Promoting to amber with recommendation of a green rating at the next GMS review. 3 cases reported with macrocephaly associated with ventriculomegaly. Recommended for addition to the panel by Genomics England clinician. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v2.11 | EEF2 | Eleanor Williams Gene: eef2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v2.10 | EEF2 |
Eleanor Williams gene: EEF2 was added gene: EEF2 was added to Hydrocephalus. Sources: Literature Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EEF2 were set to 33355653 Phenotypes for gene: EEF2 were set to hydrocephaly Review for gene: EEF2 was set to GREEN Added comment: PMID: 33355653 - Nabais Sá et al 2021 - identified de novo EEF2 missense variants in 3 unrelated children (3, 6 and 9 years of age) with a mild phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly (benign hydrocephaly) Sources: Literature |
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