| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.0 | TMEM67 | Gene migrated from ENSG00000164953 to ENSG00000164953 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | TMEM67 |
Zornitza Stark gene: TMEM67 was added gene: TMEM67 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM67 were set to COACH syndrome 216360; Meckel syndrome 3 607361; {Bardet-Biedl syndrome 14, modifier of} 615991; Joubert syndrome 6 610688 |
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