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| Mendeliome v1.1219 | CNKSR1 | Zornitza Stark Phenotypes for gene: CNKSR1 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, CNKSR1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1895 | CNKSR1 | Zornitza Stark Marked gene: CNKSR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1895 | CNKSR1 | Zornitza Stark Gene: cnksr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1895 | CNKSR1 | Zornitza Stark Classified gene: CNKSR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1895 | CNKSR1 | Zornitza Stark Gene: cnksr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1894 | CNKSR1 |
Zornitza Stark gene: CNKSR1 was added gene: CNKSR1 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: CNKSR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNKSR1 were set to 30450701; 30237576; 21937992 Phenotypes for gene: CNKSR1 were set to Intellectual disability Review for gene: CNKSR1 was set to AMBER Added comment: Three families reported, two as part of large cohorts reporting multiple novel genes. Note the family reported in PMID 30450701 appears to be the same family as reported in PMID 21937992. Some functional data in PMID 30450701, including Drosophila model. Sources: Expert Review |
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