Iron metabolism disorders - NOT common HFE mutations
Gene: CDAN1
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 panelCreated: 11 Mar 2019, 11:47 a.m.
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 RedCreated: 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 submittedCreated: 13 Feb 2019, 12:39 p.m.
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
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
Gene: cdan1 has been classified as Red List (Low Evidence).
Source Wessex and West Midlands GLH was added to CDAN1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for gene: CDAN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: cdan1 has been classified as Green List (High Evidence).
Added phenotypes 224120 Dyserythropoietic anemia, congenital, type Ia for gene: CDAN1
Source NHS GMS was added to CDAN1.
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