Bone Marrow Failure
Gene: RBSN
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: LiteratureCreated: 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
Gene: rbsn has been classified as Red List (Low Evidence).
gene: RBSN was added gene: RBSN was added to Bone Marrow Failure. Sources: Literature Mode of inheritance for gene: RBSN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBSN were set to 29784638 Phenotypes for gene: RBSN were set to Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, MIM# 620939 Review for gene: RBSN was set to RED