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Red cell 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 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 6 families reported, functional data.
Sources: Expert list
Created: 15 Sep 2020, 6:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyserythropoietic anaemia, congenital, type Ib, MIM# 615631

Publications

Created: 15 Sep 2020, 6:51 a.m.

Panel version: 0.30

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Dyserythropoietic anaemia, congenital, type Ib, MIM# 615631
OMIM
615626
Clinvar variants
Variants in C15orf41
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c15orf41 has been classified as Green List (High Evidence).

5 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: C15orf41 were changed from 615631 Congenital dyserythropoietic anaemia type 1b; Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib; 615631 Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib, 615631 to Dyserythropoietic anaemia, congenital, type Ib, MIM# 615631

5 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: C15orf41 were set to 29031773; 23716552; 29885034

15 Oct 2020, Gel status: 3

Set Phenotypes, Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes 615631 Congenital dyserythropoietic anaemia type 1b; Congenital Dyserythropoietic Anemia; 615631 Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib, 615631; Dyserythropoietic anemia, congenital, type Ib for gene: C15orf41 Publications for gene C15orf41 were updated from 29885034; 29031773; 23716552 to 29031773; 23716552; 29885034

15 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C15orf41 was added gene: C15orf41 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: C15orf41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C15orf41 were set to 29885034; 29031773; 23716552 Phenotypes for gene: C15orf41 were set to Dyserythropoietic anemia, congenital, type Ib, 615631; 615631 Congenital dyserythropoietic anaemia type 1b; Congenital Dyserythropoietic Anemia; 615631 Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib