Activity
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7 actions
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| Clefting v6.22 | MED16 | Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: MED16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v6.22 | MED16 | Achchuthan Shanmugasundram commented on gene: MED16: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v6.21 | MED16 |
Achchuthan Shanmugasundram Source NHS GMS was added to MED16. Source Expert Review Green was added to MED16. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Clefting v6.9 | MED16 | Achchuthan Shanmugasundram Classified gene: MED16 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v6.9 | MED16 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (seven unrelated families) available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v6.9 | MED16 | Achchuthan Shanmugasundram Gene: med16 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v6.8 | MED16 |
Achchuthan Shanmugasundram gene: MED16 was added gene: MED16 was added to Clefting. Sources: Literature Q3_25_promote_green tags were added to gene: MED16. Mode of inheritance for gene: MED16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED16 were set to 40081376 Phenotypes for gene: MED16 were set to Guillouet-Gordon syndrome, OMIM:621220 Review for gene: MED16 was set to GREEN Added comment: PMID:40081376 (2025) reported 25 patients from 18 families with biallelic MED16 variants and 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. There were a total of 8 predicted protein-truncating and 18 missense or in-frame duplication variants identified from these patients. Clefting was reported in eight patients from seven different families. This gene has been associated with relevant phenotypes in OMIM (MIM #621220), but not yet in Gene2Phenotype. Sources: Literature |
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