Anaemias and red cell disorders
Gene: C15orf41EnsemblGeneIds (GRCh38): ENSG00000186073
EnsemblGeneIds (GRCh37): ENSG00000186073
OMIM: 615626, Gene2Phenotype
C15orf41 is in 2 panels
3 reviews
Catherine Snow (Genomics England)
Added new-gene-name tag, new approved HGNC gene symbol for C15orf41 is CDIN1Created: 7 May 2020, 10:51 a.m. | Last Modified: 7 May 2020, 10:51 a.m.
Panel Version: 0.38
Helen Brittain (Genomics England Curator)
3 families (unrelated) with two different missense mutations reported.Created: 13 Feb 2017, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyserythropoietic anemia, congenital, type Ib 615631
Publications
- PMID 23716552
Mode of pathogenicity
Other
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital dyserythropoietic anemia (CDA)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Eligibility statement prior genetic testing
- UKGTN
- Phenotypes
-
- Congenital Dyserythropoietic Anemia
- N/A
- Tags
- OMIM
- 615626
- Clinvar variants
- Variants in C15orf41
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added Tag
Catherine Snow (Genomics England)Tag new-gene-name tag was added to gene: C15orf41.
Upload gene information
Helen Brittain (Genomics England Curator)C15orf41 was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Eligibility statement prior genetic testing
clearsources
Helen Brittain (Genomics England Curator)C15orf41All sources for gene: C15orf41 were removed
Upload gene information
Rebecca Foulger (Genomics England curator)C15orf41 was added to Anaemias and red cell disorderspanel. Sources: Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)C15orf41 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)C15orf41 was added to Anaemias and red cell disorderspanel. Sources: Eligibility statement prior genetic testing,UKGTN