Research panel - Severe Paediatric Disorders
Gene: C15orf41

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

2 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: 1.1

Created: 7 May 2020, 10:54 a.m.
Last Modified: 7 May 2020, 10:54 a.m.
Panel version: 1.1

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: C15orf41; Recommended initial gene rating: Green List (high evidence); Phenotypes: Dyserythropoietic anemia, congenital, type Ib, 615631 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:16 p.m.
Last Modified: 20 Feb 2020, 5:16 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

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

Tags

new-gene-name

OMIM

615626

Clinvar variants

Variants in C15orf41

Penetrance

None

Publications

30847515

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 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.

21 Feb 2020, Gel status: 3