Genomics England
GMS Panels
Panels
Genes and Entities

CIB2

calcium and integrin binding family member 2
OMIM: 605564
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NONSYNDROMIC DEAFNESS DFNB48 609439, USHER SYNDROME TYPE 1J 614869
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#609439:Deafness, autosomal recessive 48, hearing loss, #614869:Usher syndrome, type IJ