PanelApp
  1. Genes and Genomic Entities
  2. RBSN

RBSN

rabenosyn, RAB effector
OMIM: 609511, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red RBSN in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, MIM# 620939

    Green RBSN in Mendeliome


    Version 1.2374

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Kariminejad-Reversade neurodevelopmental syndrome, MIM# 620937

    Green RBSN in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Kariminejad-Reversade neurodevelopmental syndrome, MIM# 620937