Bone Marrow Failure
Gene: C15orf41
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyserythropoietic anemia, congenital, type Ib
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
At least 6 families reported, functional data.
Sources: Expert listCreated: 15 Sep 2020, 6:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyserythropoietic anemia, congenital, type Ib, MIM# 615631
Publications
Gene: c15orf41 has been classified as Green List (High Evidence).
Gene: c15orf41 has been classified as Green List (High Evidence).
gene: C15orf41 was added gene: C15orf41 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: C15orf41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C15orf41 were set to 23716552; 32293259; 31191338; 29885034 Phenotypes for gene: C15orf41 were set to Dyserythropoietic anemia, congenital, type Ib, MIM# 615631 Review for gene: C15orf41 was set to GREEN