Inherited predisposition to acute myeloid leukaemia (AML)
Gene: DDX41
On the current WWMGLH Familial MDS/AML panel. In WHO classification. Testing recommended in AML ELN guidelines and by Obrochta and Godley (Best Pract Res Clin Haematol. 2018 Dec;31(4):373-378).Created: 7 Mar 2019, 11:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.Created: 18 Feb 2019, 2:06 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}
Variants in this GENE are reported as part of current diagnostic practice
Gene rating submitted by Mandy Nesbitt SheffieldDiagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North EastGLH for the GMS Haematology specialist test group.Created: 14 Feb 2019, 2:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}
Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.Created: 18 Mar 2019, 4:26 p.m.
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DDX41; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}; PMID(s): none submittedCreated: 18 Feb 2019, 2:12 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: 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 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}; PMID(s): none submittedCreated: 14 Feb 2019, 2:43 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ETV6; Suggested intial gene rating: not submitted; Are variants in this gene part of your current diagnostic practice? not submitted; MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 600618 (OMIN gene description ID); 616216 (OMIM phenotype description ID); PMID(s): 28600339Created: 5 Feb 2019, 8:10 p.m.
Gene rating (none submitted) by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 5 Feb 2019, 8:08 p.m.
Phenotypes for gene: DDX41 were changed from 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}; 616871 (OMIM phenotype description ID) to {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, OMIM:616871; DDX41-related hematologic malignancy predisposition syndrome, MONDO:0014809
Publications for gene: DDX41 were set to 25920683; 2671290930466750; 27895058; 27069254
Publications for gene: DDX41 were set to 25920683; 26712909
Gene: ddx41 has been classified as Green List (High Evidence).
Added phenotypes 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} for gene: DDX41
Source North West GLH was added to DDX41.
Added phenotypes 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} for gene: DDX41
Source Yorkshire and North East GLH was added to DDX41.
Source NHS GMS was added to DDX41. Added phenotypes 616871 (OMIM phenotype description ID) for gene: DDX41
Source Expert Review Amber was added to DDX41. Mode of inheritance for gene DDX41 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 616871 (OMIM phenotype description ID) for gene: DDX41 Publications for gene DDX41 were changed from to 25920683; 26712909 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: DDX41 was added gene: DDX41 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH Mode of inheritance for gene: DDX41 was set to