Monogenic hearing loss
Gene: CABP2EnsemblGeneIds (GRCh38): ENSG00000167791
EnsemblGeneIds (GRCh37): ENSG00000167791
OMIM: 607314, Gene2Phenotype
CABP2 is in 2 panels
3 reviews
Maria Bitner-Glindzicz (UCL)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Jun Shen (Harvard Medical School)
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
Damian Smedley (Genomics England Curator)
Comment on list classification: Good evidence from OMIM and expert reviewCreated: 31 Jan 2016, 8:01 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Deafness, autosomal recessive 93, 614899
- OMIM
- 607314
- Clinvar variants
- Variants in CABP2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CABP2 were set to PMID:10625670; 11108966; 22981119
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for CABP2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)CABP2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)CABP2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)CABP2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert