Rare anaemia
Gene: ABCB7The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 9:06 a.m. | Last Modified: 1 Feb 2023, 9:06 a.m.
Panel Version: 2.3
MOI should be changed from "X-LINKED: hemizygous mutation in males, biallelic mutations in females" to "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)" as some carrier females have ring sideroblasts, dimorphic peripheral bloode smear, hypochromic and microcytic erythrocytes but no evidence of ataxia.Created: 19 Jul 2021, 12:23 p.m. | Last Modified: 19 Jul 2021, 12:23 p.m.
Panel Version: 1.23
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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, 2:24 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Sideroblastic Anemia and Ataxia; Anemia, sideroblastic, with ataxia, 301310
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: 14 Feb 2019, 4:04 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
301310 Sideroblastic Anemia and Ataxia; Anemia, sideroblastic, with ataxia
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, 3:46 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
301310 Sideroblastic anaemia
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: ABCB7; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Sideroblastic Anemia and Ataxia;Anemia, sideroblastic, with ataxia, 301310; PMID(s): none submittedCreated: 18 Feb 2019, 2:28 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: ABCB7; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 301310 Sideroblastic Anemia and Ataxia;Anemia, sideroblastic, with ataxia; PMID(s): none submittedCreated: 14 Feb 2019, 4:05 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: ABCB7; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 301310 Sideroblastic anaemia; PMID(s): 4045952; 11050011; 11843825;Created: 8 Feb 2019, 3:49 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: ABCB7; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Sideroblastic Anemia and Ataxia;Anemia, sideroblastic, with ataxia, 301310; PMID(s): 20408841;24255920;10196363;11050011;22398176;11843825Created: 6 Feb 2019, 12:14 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: 6 Feb 2019, 12:13 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_21_MOI was removed from gene: ABCB7.
Mode of inheritance for gene ABCB7 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Tag Q3_21_MOI tag was added to gene: ABCB7.
Added phenotypes Sideroblastic Anemia and Ataxia; Anemia, sideroblastic, with ataxia, 301310 for gene: ABCB7
Source North West GLH was added to ABCB7.
Added phenotypes Anemia, sideroblastic, with ataxia; 301310 Sideroblastic Anemia and Ataxia for gene: ABCB7
Source Yorkshire and North East GLH was added to ABCB7.
Added phenotypes 301310 Sideroblastic anaemia for gene: ABCB7 Publications for gene ABCB7 were changed from 10196363; 11050011; 11843825; 24255920; 20408841; 22398176 to 11843825; 4045952; 11050011
Source London South GLH was added to ABCB7.
Source NHS GMS was added to ABCB7.
Source Expert Review Green was added to ABCB7. Mode of inheritance for gene ABCB7 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Sideroblastic Anemia and Ataxia; Anemia, sideroblastic, with ataxia, 301310 for gene: ABCB7 Publications for gene ABCB7 were changed from to 10196363; 11050011; 11843825; 24255920; 20408841; 22398176 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: ABCB7 was added gene: ABCB7 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ABCB7 was set to