Monogenic hearing loss
Gene: CABP2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#614899:Deafness, autosomal recessive 93[Deafness, stable bilateral symmetric prelingualModerate-to-severe in all frequencies, but slightly more pronounced in mid-frequenciesNormal static compliance on tympanometryNormal middle ear pressures on tympanometry]
Publications
Comment on list classification: Good evidence from OMIM and expert reviewCreated: 31 Jan 2016, 8:01 a.m.
Publications for CABP2 were set to PMID:10625670; 11108966; 22981119
Mode of inheritance for CABP2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
CABP2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
CABP2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
CABP2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert