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Intellectual disability - microarray and sequencing v3.781 | CCDC186 | Sarah Leigh Classified gene: CCDC186 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v3.781 | CCDC186 | Sarah Leigh Gene: ccdc186 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v3.780 | CCDC186 |
Sarah Leigh changed review comment from: Not associated with relevant phenotype in OMIM or Gen2Phen. At least 2 terminating variants reported in unrelated cases. Sources: Literature; to: Not associated with a relevant phenotype in OMIM or Gen2Phen. At least 2 terminating variants reported in cases with failure to thrive and developmental delay. Sources: Literature |
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Intellectual disability - microarray and sequencing v3.780 | CCDC186 |
Sarah Leigh gene: CCDC186 was added gene: CCDC186 was added to Intellectual disability. Sources: Literature watchlist tags were added to gene: CCDC186. Mode of inheritance for gene: CCDC186 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC186 were set to 33259146; 28600779 Phenotypes for gene: CCDC186 were set to failure to thrive and developmental delay Review for gene: CCDC186 was set to AMBER Added comment: Not associated with relevant phenotype in OMIM or Gen2Phen. At least 2 terminating variants reported in unrelated cases. Sources: Literature |