Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.299 | EEF1D |
Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: EEF1D. Tag Q2_25_ NHS_review was removed from gene: EEF1D. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.299 | EEF1D | Arina Puzriakova commented on gene: EEF1D: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.298 | EEF1D |
Arina Puzriakova Source NHS GMS was added to EEF1D. Source Expert Review Green was added to EEF1D. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.4 | EEF1D | Arina Puzriakova Phenotypes for gene: EEF1D were changed from Neurodevelopmental disorder; OMIM#621150 to Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language, OMIM:621150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.3 | EEF1D | Arina Puzriakova Classified gene: EEF1D as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.3 | EEF1D | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.3 | EEF1D | Arina Puzriakova Gene: eef1d has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.2 | EEF1D |
Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: EEF1D. Tag Q2_25_ NHS_review tag was added to gene: EEF1D. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.2 | EEF1D | Arina Puzriakova reviewed gene: EEF1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 28097321, 30787422, 36576126, 38083972; Phenotypes: Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language, OMIM:621150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.243 | EEF1D |
Julia Baptista gene: EEF1D was added gene: EEF1D was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: EEF1D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EEF1D were set to 36576126; 30787422; 38083972; 28097321 Phenotypes for gene: EEF1D were set to Neurodevelopmental disorder; OMIM#621150 Review for gene: EEF1D was set to GREEN Added comment: Biallelic variants described in at least 5 families from different areas (Syria, Turkey, Oman and China). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||