Bone Marrow Failure

Gene: RBSN

Red List (low evidence)

Single family reported, 3 affected sibs, homozygous splice site variant. However, also note biallelic variants in this gene have also been associated with a neurodevelopmental syndrome in the absence of bone marrow involvement, Kariminejad-Reversade neurodevelopmental syndrome, MIM#620937. Given the overall small number of families reported, it is currently unclear whether these are two distinct disorders or part of a spectrum.
Sources: Literature

Created: 12 Sep 2024, 1:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, MIM# 620939

Publications

• 29784638