Genomics England
GMS Panels
Panels
Genes and Entities
CABP2
calcium binding protein 2
OMIM:
607314
See this entity in PanelApp
Panel
Mode of inheritance
Details
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Monogenic hearing loss
Component of the following Super Panels:
- Paediatric disorders
R-numbers:
R67
Signed-off version 4.51
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal recessive 93, 614899