Cytopenias and congenital anaemias
Gene: C15orf41Added new-gene-name tag, new approved HGNC gene symbol for C15orf41 is CDIN1Created: 7 May 2020, 10:54 a.m. | Last Modified: 7 May 2020, 10:54 a.m.
Panel Version: 1.73
Comment on list classification: Promoted from Red to Green due to evidence in the literatureCreated: 24 Feb 2017, 11:21 a.m.
Comment on list classification: Promoted from Red to Green due to evidence in the literatureCreated: 24 Feb 2017, 11:21 a.m.
Comment on mode of pathogenicity: To date, only two homozygous missense variants have been reported that cause congenital dyserythropoietic anemia type Ib.Created: 24 Feb 2017, 11:20 a.m.
Comment on publications: added original publications where 2 of the families were first reportedCreated: 24 Feb 2017, 11:07 a.m.
Comment on phenotypes: updated phenotype from reviewer suggestion.Created: 24 Feb 2017, 11:05 a.m.
Mode of pathogenicity
Other
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
Mode of pathogenicity
Other
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
Phenotypes for gene: C15orf41 were changed from Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib 615631 to Dyserythropoietic anemia, congenital, type Ib, OMIM:615631; Congenital dyserythropoietic anemia type type 1B, MONDO:0014285
Tag new-gene-name tag was added to gene: C15orf41.
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for C15orf41 was changed to Other - please provide details in the comments
Publications for C15orf41 were set to 23716552;16643452;9220189
Publications for C15orf41 were set to 23716552
Phenotypes for C15orf41 were set to Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib 615631
C15orf41 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Eligibility statement prior genetic testing
C15orf41 was created by LouiseD