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Severe Paediatric Disorders

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 3 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

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

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
Panels with this gene