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| Ductal plate malformation v1.16 | CEP290 | Arina Puzriakova Tag curated_removed tag was added to gene: CEP290. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.24 | CEP290 |
Ivone Leong Source Expert Review Removed was added to CEP290. Rating Changed from Green List (high evidence) to No List (delete) |
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| Ductal plate malformation v0.2 | CEP290 |
Ivone Leong gene: CEP290 was added gene: CEP290 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP290 were set to Meckel syndrome 4 (611134); Joubert syndrome 5 (610188); ?Bardet-Biedl syndrome 14 (615991) |
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