Activity
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8 actions
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| Severe microcephaly v7.12 | FRA10AC1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FRA10AC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v7.12 | FRA10AC1 | Achchuthan Shanmugasundram commented on gene: FRA10AC1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v7.11 | FRA10AC1 |
Achchuthan Shanmugasundram Source NHS GMS was added to FRA10AC1. Source Expert Review Green was added to FRA10AC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v5.17 | FRA10AC1 | Achchuthan Shanmugasundram Classified gene: FRA10AC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v5.17 | FRA10AC1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated families) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v5.17 | FRA10AC1 | Achchuthan Shanmugasundram Gene: fra10ac1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v5.16 | FRA10AC1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FRA10AC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v5.16 | FRA10AC1 |
Achchuthan Shanmugasundram gene: FRA10AC1 was added gene: FRA10AC1 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRA10AC1 were set to 34694367 Phenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, OMIM:620113 Review for gene: FRA10AC1 was set to GREEN Added comment: PMID:34694367 reported the identification of homozygous FRA10AC1 variants in five individuals from three unrelated consanguineous Arabic families with a neurodevelopmental disorder. The two unrelated patients from two different families with loss-of-function variants (g.4656_7575del and c.561_562insTTTA/ p.Ser188Phefs*6) presented with developmental delay, profound intellectual disability (ID), and no speech, while three siblings from the third family with the c.494_496delAAG (p.Glu165del) variant had borderline to mild ID. All five individuals had microcephaly and the Z-score of OFC was <-3 for four individuals from three families. This gene has been associated with relevant phenotypes in OMIM (MIM #620113) and Gene2Phenotype ('strong' rating on the DD panel). Sources: Literature |
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