| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ductal plate malformation v1.16 | BBS12 | Arina Puzriakova Tag curated_removed tag was added to gene: BBS12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v1.16 | BBS10 | Arina Puzriakova Tag curated_removed tag was added to gene: BBS10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v1.16 | BBS1 | Arina Puzriakova Tag curated_removed tag was added to gene: BBS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.24 | BBS12 |
Ivone Leong Source Expert Review Removed was added to BBS12. Rating Changed from Green List (high evidence) to No List (delete) |
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| Ductal plate malformation v0.24 | BBS10 |
Ivone Leong Source Expert Review Removed was added to BBS10. Rating Changed from Green List (high evidence) to No List (delete) |
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| Ductal plate malformation v0.24 | BBS1 |
Ivone Leong Source Expert Review Removed was added to BBS1. Rating Changed from Green List (high evidence) to No List (delete) |
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| Ductal plate malformation v0.2 | BBS12 |
Ivone Leong gene: BBS12 was added gene: BBS12 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: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome 12 (615989) |
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| Ductal plate malformation v0.2 | BBS10 |
Ivone Leong gene: BBS10 was added gene: BBS10 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: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS10 were set to Bardet-Biedl syndrome 10 (615987) |
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| Ductal plate malformation v0.2 | BBS1 |
Ivone Leong gene: BBS1 was added gene: BBS1 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: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1 (209900) |
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