Genomics England
GMS Panels
Panels
Genes and Entities
SYNE4
spectrin repeat containing nuclear envelope family member 4
OMIM:
615535
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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 76, 615540