Cytopenia - NOT Fanconi anaemia
Gene: DDX41The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 4 Mar 2022, 9:49 a.m. | Last Modified: 4 Mar 2022, 9:49 a.m.
Panel Version: 1.57
Comment on list classification: The rating of this gene should be re-evaluated by the GMS Haematology Specialist Test Group in context of the recent review by Zornitza Stark (added for-review tag)Created: 28 Sep 2020, 2:54 p.m. | Last Modified: 28 Sep 2020, 2:54 p.m.
Panel Version: 1.15
Approximately half of individuals reported in this cohort experienced cytopaenia in the years preceding the diagnosis of a malignancy. Identification of a DDX47 variant in an individual presenting with cytopaenia could have significant implications for their ongoing management and we have therefore rated this gene Green on our Bone Marrow Failure panel.Created: 13 Sep 2020, 11:09 p.m. | Last Modified: 13 Sep 2020, 11:09 p.m.
Panel Version: 1.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. YNEGLH noted this is a susceptibility gene.Created: 22 Jul 2019, 2:09 p.m. | Last Modified: 22 Jul 2019, 2:09 p.m.
Panel Version: 0.108
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DDX41; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616871 Susceptibility to myeloid neoplasms; PMID(s): 25920683; 26712909Created: 8 Feb 2019, 1:43 p.m.
Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 8 Feb 2019, 1:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
616871 Susceptibility to myeloid neoplasms
Tag for-review was removed from gene: DDX41.
Source Expert Review Green was added to DDX41. Rating Changed from Red List (low evidence) to Green List (high evidence)
Phenotypes for gene: DDX41 were changed from 616871 Susceptibility to myeloid neoplasms to Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to, 616871
Gene: ddx41 has been classified as Red List (Low Evidence).
Tag for-review tag was added to gene: DDX41.
Gene: ddx41 has been classified as Red List (Low Evidence).
Source Expert Review Green was added to DDX41. Rating Changed from Red List (low evidence) to Green List (high evidence)
Mode of inheritance for gene DDX41 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 616871 Susceptibility to myeloid neoplasms for gene: DDX41
Added phenotypes 616871 Susceptibility to myeloid neoplasms for gene: DDX41 Publications for gene DDX41 were changed from to 25920683; 26712909
Source NHS GMS was added to DDX41.
gene: DDX41 was added gene: DDX41 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: DDX41 was set to