Genomics England
GMS Panels
Panels
Genes and Entities
RBSN
rabenosyn, RAB effector
OMIM:
609511
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Panel
Mode of inheritance
Details
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Intellectual disability
Component of the following Super Panels:
- Childhood onset leukodystrophy
- Hypotonic infant
- Paediatric disorders
R-numbers:
R29
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
intellectual disability, MONDO:0001071