Genomics England
GMS Panels
Panels
Genes and Entities

RBSN

rabenosyn, RAB effector
OMIM: 609511
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kariminejad-Reversade neurodevelopmental syndrome, OMIM:620937, Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, OMIM:620939