Iron metabolism disorders - NOT common HFE mutations
Gene: CDAN1

CDAN1 (codanin 1)
EnsemblGeneIds (GRCh38): ENSG00000140326
EnsemblGeneIds (GRCh37): ENSG00000140326
OMIM: 607465, Gene2Phenotype
CDAN1 is in 5 panels

4 reviews

PATRICIA BIGNELL (Oxford Hospitals NHS Foundation Trust)

Red List (low evidence)

Created: 28 May 2019, 1:11 p.m.

Panel version: 0.37

Carl Fratter (Oxford University Hospitals NHS Trust)

Red List (low evidence)

Congenital Dyserythropoietic Anemia, Type I
This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis.
This is more appropriate for the rare anaemia panel
Created: 11 Mar 2019, 11:47 a.m.

Created: 11 Mar 2019, 11:47 a.m.

Panel version: 0.25

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Downgraded from Green to Red. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Red. YNEGLH noted that it is Green on the Rare Anaemia panel.
Created: 22 Jul 2019, 3:07 p.m. | Last Modified: 22 Jul 2019, 3:07 p.m.

Panel Version: 0.44

Discrepant reviews, to be discussed at July workshop to agree rating.
Created: 22 Jul 2019, 3:06 p.m. | Last Modified: 22 Jul 2019, 3:06 p.m.

Panel Version: 0.43

Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Red
Created: 28 May 2019, 2:08 p.m.

Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CDAN1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 224120 Dyserythropoietic anemia, congenital, type Ia; PMID(s): none submitted
Created: 13 Feb 2019, 12:39 p.m.

Created: 13 Feb 2019, 12:39 p.m.

Panel version: 0.43

Mandy nesbitt (Healthcare Professional)

Green List (high evidence)

Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.
Created: 13 Feb 2019, 12:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
224120 Dyserythropoietic anemia, congenital, type Ia

Created: 13 Feb 2019, 12:36 p.m.

Panel version: 0.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Wessex and West Midlands GLH
NHS GMS
Yorkshire and North East GLH

Phenotypes

Dyserythropoietic anemia, congenital, type Ia, OMIM:224120
Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135

OMIM

607465

Clinvar variants

Variants in CDAN1

Penetrance

None

Panels with this gene

History Filter Activity

2 Mar 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CDAN1 were changed from 224120 Dyserythropoietic anemia, congenital, type Ia to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135

22 Jul 2019, Gel status: 1