Iron metabolism disorders

Gene: CDAN1

Red List (low evidence)

CDAN1 (codanin 1)
EnsemblGeneIds (GRCh38): ENSG00000140326
EnsemblGeneIds (GRCh37): ENSG00000140326
OMIM: 607465, Gene2Phenotype
CDAN1 is in 6 panels

4 reviews

PATRICIA BIGNELL (Oxford Hospitals NHS Foundation Trust)

Red List (low evidence)

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.

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.

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

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

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cdan1 has been classified as Red List (Low Evidence).

28 May 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to CDAN1. Rating Changed from Green List (high evidence) to Green List (high evidence)

13 Feb 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CDAN1 was changed from to BIALLELIC, autosomal or pseudoautosomal

13 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cdan1 has been classified as Green List (High Evidence).

13 Feb 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 224120 Dyserythropoietic anemia, congenital, type Ia for gene: CDAN1

13 Feb 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CDAN1.

13 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CDAN1 was added gene: CDAN1 was added to Iron metabolism disorders. Sources: Yorkshire and North East GLH Mode of inheritance for gene: CDAN1 was set to