1. Genes and Genomic Entities
  2. RBSN

RBSN

rabenosyn, RAB effector
OMIM: 609511, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green RBSN in Intellectual disability


Level 2: Developmental disorders
Version 9.285
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Kariminejad-Reversade neurodevelopmental syndrome, OMIM:620937
    • Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, OMIM:620939