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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