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IBMDx study

Gene: C15orf41

Green List (high evidence)
C15orf41 (chromosome 15 open reading frame 41)
EnsemblGeneIds (GRCh38): ENSG00000186073
EnsemblGeneIds (GRCh37): ENSG00000186073
OMIM: 615626, Gene2Phenotype
C15orf41 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 6 families reported, functional data.
Sources: Expert list
Created: 15 Sep 2020, 6:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyserythropoietic anemia, congenital, type Ib, MIM# 615631

Publications

Created: 15 Sep 2020, 6:51 a.m.

Panel version: Imported from Bone Marrow Failure panel version 0.162

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Expert list
Phenotypes
  • Dyserythropoietic anemia, congenital, type Ib, MIM# 615631
OMIM
615626
Clinvar variants
Variants in C15orf41
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C15orf41 was added gene: C15orf41 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: C15orf41 was set to Unknown Phenotypes for gene: C15orf41 were set to Dyserythropoietic anemia, congenital, type Ib, MIM# 615631