| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Additional findings_Paediatric v0.83 | CIB2 | Zornitza Stark Marked gene: CIB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.83 | CIB2 | Zornitza Stark Gene: cib2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.83 | CIB2 | Zornitza Stark Classified gene: CIB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.83 | CIB2 | Zornitza Stark Gene: cib2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.82 | CIB2 |
Zornitza Stark gene: CIB2 was added gene: CIB2 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIB2 were set to 23023331; 23023331; 26173970; 26473954; 27344577; 26226137; 26445815 Phenotypes for gene: CIB2 were set to Deafness, autosomal recessive 48, MIM# 609439 Review for gene: CIB2 was set to GREEN Added comment: DEFINITIVE association with isolated deafness, REFUTED association with Usher syndrome by ClinGen. Multiple families, mouse and zebrafish animal models, all families but one with isolated deafness. Sources: Expert list |
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