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  3. C15orf41
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Bone Marrow Failure

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

2 reviews

Santosh Varughese (University of Melbourne)

Green List (high evidence)

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

Created: 22 May 2024, 8:22 a.m.
Last Modified: 22 May 2024, 8:22 a.m.
Panel version: 1.91

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: 0.162

Details

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

History Filter Activity

15 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c15orf41 has been classified as Green List (High Evidence).

15 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c15orf41 has been classified as Green List (High Evidence).

15 Sep 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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