Iron metabolism disorders - NOT common HFE mutations
Gene: SEC23B
SEC23B gene have been identified in people with congenital dyserythropoietic anemia (CDA) type II.
These defective erythroblasts cannot develop into functional mature red blood cells. The resulting shortage of healthy red blood cells leads to the characteristic signs and symptoms of anemia, as well as complications including an enlarged liver and spleen (hepatosplenomegaly) and an abnormal buildup of iron that can damage the body's organs.
More appropriate for the rare anaemia panelCreated: 11 Mar 2019, 11:51 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. It is Green on the rare anaemias panelCreated: 22 Jul 2019, 3:10 p.m. | Last Modified: 22 Jul 2019, 3:10 p.m.
Panel Version: 0.45
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: SEC23B; 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: 224100 Dyserythropoietic anemia, congenital, type II; 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
224100 Dyserythropoietic anemia, congenital, type II
Phenotypes for gene: SEC23B were changed from 224100 Dyserythropoietic anemia, congenital, type II to Dyserythropoietic anemia, congenital, type II OMIM:224100; congenital dyserythropoietic anemia type 2 MONDO:0009134
Gene: sec23b has been classified as Red List (Low Evidence).
Source Wessex and West Midlands GLH was added to SEC23B. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for gene: SEC23B was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: sec23b has been classified as Green List (High Evidence).
Added phenotypes 224100 Dyserythropoietic anemia, congenital, type II for gene: SEC23B
Source NHS GMS was added to SEC23B.
gene: SEC23B was added gene: SEC23B was added to Iron metabolism disorders. Sources: Yorkshire and North East GLH Mode of inheritance for gene: SEC23B was set to