Monogenic hearing loss
Gene: CIB2New review confirms gene status and mode of inheritance; no changes required.Created: 11 Oct 2018, 1:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#609439:Deafness, autosomal recessive 48[Hearing loss, congenital, profound (250-8,000 Hz)]; #614869:Usher syndrome, type IJ[Deafness, sensorineural, profoundVestibular dysfunction; Retinitis pigmentosa; Delayed motor development]
Publications
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:04 p.m.
usher syndrome and non-syndromic hearing lossCreated: 19 Oct 2015, 7:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for CIB2 were set to #609439:Deafness, autosomal recessive 48; hearing loss; #614869:Usher syndrome, type IJ
Publications for CIB2 were set to PMID:18505454; 23023331; 9931475
Mode of inheritance for CIB2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
CIB2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert
CIB2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert
CIB2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert
CIB2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert