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Cytopenias and congenital anaemias
Gene: C15orf41

C15orf41 (chromosome 15 open reading frame 41)
EnsemblGeneIds (GRCh38): ENSG00000186073
EnsemblGeneIds (GRCh37): ENSG00000186073
OMIM: 615626, Gene2Phenotype
C15orf41 is in 2 panels

4 reviews

Catherine Snow (Genomics England)

Added new-gene-name tag, new approved HGNC gene symbol for C15orf41 is CDIN1
Created: 7 May 2020, 10:54 a.m. | Last Modified: 7 May 2020, 10:54 a.m.

Panel Version: 1.73

Created: 7 May 2020, 10:54 a.m.
Last Modified: 7 May 2020, 10:54 a.m.
Panel version: 1.73

Louise Daugherty (Genomics England Curator)

Comment on list classification: Promoted from Red to Green due to evidence in the literature
Created: 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 reported
Created: 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

Created: 24 Feb 2017, 11:17 a.m.

Panel version: 0.64

Helen Brittain (Genomics England Curator)

Green List (high evidence)

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

Created: 13 Feb 2017, 11:44 a.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.23

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital dyserythropoietic anemia (CDA)

Publications

23716552

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:45 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Eligibility statement prior genetic testing

Phenotypes

Dyserythropoietic anemia, congenital, type Ib, OMIM:615631
Congenital dyserythropoietic anemia type type 1B, MONDO:0014285

Tags

missense new-gene-name

OMIM

615626

Clinvar variants

Variants in C15orf41

Penetrance

Complete

Publications

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene

History Filter Activity

2 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

7 May 2020, Gel status: 3

Added Tag

Catherine Snow (Genomics England)

Tag new-gene-name tag was added to gene: C15orf41.

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

24 Feb 2017, Gel status: 4