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| Joubert syndrome and other neurological ciliopathies v2.0 | CPLANE1 | Gene symbol changed from C5orf42 to CPLANE1 during gene set migration (ENSG00000197603 -> ENSG00000197603) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v1.5 | C5orf42 |
Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease associations both with prominent neurological features. More than 10 unrelated families reported with each association. New gene name is CPLANE1. |
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