Iron metabolism disorders - NOT common HFE mutations
Gene: CP
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, 11:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
604290 ACERULOPLASMINEMIA
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
604290 ACERULOPLASMINEMIA
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, 5:24 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
604290 Hemosiderosis, systemic, due to aceruloplasminemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
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: CP; Suggested initial 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: 604290.ACERULOPLASMINEMIA; PMID(s): none submittedCreated: 18 Feb 2019, 11:49 a.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: CP; 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: 604290 ACERULOPLASMINEMIA; PMID(s): none submittedCreated: 13 Feb 2019, 12:39 p.m.
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: CP; Suggested intial 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: 604290 Hemosiderosis, systemic, due to aceruloplasminemia; PMID(s): 8641692; 8789443; 11756598(potentially evidence for AD inheritance)Created: 8 Feb 2019, 5:25 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: CP; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604290 ACERULOPLASMINEMIA; PMID(s): Aceruloplasminemia GeneReviews 2018; 29503155; 16629161; 24002824Created: 5 Feb 2019, 5:51 p.m.
Gene rating 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, 5:50 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: CP were changed from 604290 Hemosiderosis, systemic, due to aceruloplasminemia; 604290 ACERULOPLASMINEMIA to aceruloplasminemia MONDO:0011426; Hemosiderosis, systemic, due to aceruloplasminemia OMIM:604290
Added phenotypes 604290 ACERULOPLASMINEMIA for gene: CP
Source North West GLH was added to CP.
Added phenotypes 604290 ACERULOPLASMINEMIA for gene: CP Publications for gene CP were changed from 8641692; 8789443; 11756598(potentially evidence for AD inheritance) to 15338274
Source Yorkshire and North East GLH was added to CP.
Added phenotypes 604290 Hemosiderosis, systemic, due to aceruloplasminemia for gene: CP Publications for gene CP were changed from 16629161; Aceruloplasminemia GeneReviews 2018; 24002824; 29503155 to 8641692; 8789443; 11756598(potentially evidence for AD inheritance)
Source London South GLH was added to CP.
Source NHS GMS was added to CP.
Source Expert Review Green was added to CP. Mode of inheritance for gene CP was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 604290 ACERULOPLASMINEMIA for gene: CP Publications for gene CP were changed from to 16629161; Aceruloplasminemia GeneReviews 2018; 24002824; 29503155 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CP was added gene: CP was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CP was set to