Activity
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11 actions
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| Intellectual disability v9.300 | MED16 |
Arina Puzriakova Tag Q3_25_promote_green was removed from gene: MED16. Tag Q3_25_NHS_review was removed from gene: MED16. |
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| Intellectual disability v9.299 | MED16 | Arina Puzriakova reviewed gene: MED16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.298 | MED16 |
Arina Puzriakova Source Expert Review Green was added to MED16. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v9.57 | MED16 | Achchuthan Shanmugasundram Classified gene: MED16 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.57 | MED16 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (10 unrelated families) available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.57 | MED16 | Achchuthan Shanmugasundram Gene: med16 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.56 | MED16 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: MED16. Tag Q3_25_NHS_review tag was added to gene: MED16. |
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| Intellectual disability v9.56 | MED16 | Achchuthan Shanmugasundram Phenotypes for gene: MED16 were changed from developmental delay; multiple congenital abnormalities; Medopathy to Guillouet-Gordon syndrome, OMIM:621220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.56 | MED16 | Achchuthan Shanmugasundram Publications for gene: MED16 were set to PMID: 40081376 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.55 | MED16 | Achchuthan Shanmugasundram reviewed gene: MED16: Rating: GREEN; Mode of pathogenicity: None; Publications: 40081376; Phenotypes: Guillouet-Gordon syndrome, OMIM:621220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.51 | MED16 |
Karen Stals gene: MED16 was added gene: MED16 was added to Intellectual disability. Sources: NHS GMS Mode of inheritance for gene: MED16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED16 were set to PMID: 40081376 Phenotypes for gene: MED16 were set to developmental delay; multiple congenital abnormalities; Medopathy Penetrance for gene: MED16 were set to unknown Review for gene: MED16 was set to GREEN gene: MED16 was marked as current diagnostic Added comment: 25 individuals from 18 families reported with biallelic MED16 variants with multiple congenital anomalies (MCAs)-intellectual disability syndrome. Intellectual disability, speech delay, and/or motor delay of variable severity were constant and associated with variable combinations of craniofacial defects (micro/retrognathia, cleft palate, and preauricular tags), anomalies of the extremities, and heart defects (predominantly tetralogy of Fallot). Visual impairment, deafness, and magnetic resonance imaging (MRI) abnormalities were also frequent. 8 predicted protein-truncating and 18 missense or in-frame duplication variants identified. Sources: NHS GMS |
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