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Non-Fanconi anaemia

Gene: C15orf41

Red List (low evidence)
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, 10:52 a.m. | Last Modified: 7 May 2020, 10:52 a.m.
Panel Version: 0.335
Created: 7 May 2020, 10:52 a.m.
Last Modified: 7 May 2020, 10:52 a.m.
Panel version: 0.335

Helen Savage (Congenica Ltd)

I don't know

Mutations in C15orf41 reported in 3, unrelated consanguineous families. No functional studies done.

Ref: Babbs, C., Roberts, N. A., Sanchez-Pulido, L., McGowan, S. J., Ahmed, M. R., Brown, J. M., Sabry, M. A., WGS500 Consortium, Bentley, D. R., McVean, G. A., Donnelly, P., Gileadi, O., Ponting, C. P., Higgs, D. R., Buckle, V. J. Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. Haemotologica 98: 1383-1387, 2013
Created: 27 Jan 2016, 9 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital dyserythropoietic anemia type Ib

Created: 27 Jan 2016, 9 a.m.

Panel version: 0.228

Details

Sources
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Congenital Anaemia
  • Congenital Dyserythropoietic Anemia
Tags
new-gene-name
OMIM
615626
Clinvar variants
Variants in C15orf41
Penetrance
Complete
Panels with this gene

History Filter Activity

7 May 2020, Gel status: 1

Added Tag

Catherine Snow (Genomics England)

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

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

C15orf41 was added to Non-Fanconi anaemiapanel. Source: UKGTN

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

C15orf41 was added to Non-Fanconi anaemiapanel. Source: Eligibility statement prior genetic testing

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

C15orf41 was added to Non-Fanconi anaemiapanel. Source: UKGTN

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

C15orf41 was added to Non-Fanconi anaemiapanel. Sources: UKGTN