Cytopenia - NOT Fanconi anaemia
Gene: GATA1
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, 2:55 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Myelodysplastic syndrome (MDS), Paediatric; Diamond Blackfan Anaemia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
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, 5:39 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
314050 Thrombocytopenia with beta-thalassemia, X-linked
Variants in this GENE are reported as part of current diagnostic practice
Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there is enough evidence to rate this gene Green. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: X-linked thrombocytopenia with dyserythropoiesis; North West GLH: no comment submitted; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.Created: 22 Jul 2019, 11:51 a.m. | Last Modified: 22 Jul 2019, 11:51 a.m.
Panel Version: 0.63
Discrepant reviews for GATA1 : 3 GLH GREEN, 1 GLH AMBER. To be discussed at July workshop to agree rating.Created: 22 Jul 2019, 11:51 a.m. | Last Modified: 22 Jul 2019, 11:51 a.m.
Panel Version: 0.62
New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.Created: 4 May 2019, 8:55 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: GATA1; 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: Myelodysplastic syndrome (MDS), Paediatric;Diamond Blackfan Anaemia;Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367; PMID(s): none submittedCreated: 18 Feb 2019, 2:57 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: GATA1; Suggested initial gene rating: I don't know; 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: 314050 Thrombocytopenia with beta-thalassemia, X-linked; PMID(s): none submittedCreated: 14 Feb 2019, 5:40 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: GATA1; 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: Myelodysplastic syndrome (MDS), Paediatric;Diamond Blackfan Anaemia;Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; PMID(s): 22706301;10700180;24766296;24952648;24453067Created: 6 Feb 2019, 3:13 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, 3:12 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Source Expert review Green was added to GATA1.
Gene: gata1 has been classified as Green List (High Evidence).
Source London South GLH was added to GATA1.
Publications for gene: GATA1 were set to 22706301; 24952648; 24766296; 10700180; 24453067
Phenotypes for gene: GATA1 were changed from 314050 Thrombocytopenia with beta-thalassemia, X-linked; Diamond Blackfan Anaemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Myelodysplastic syndrome (MDS), Paediatric to 314050 Thrombocytopenia with beta-thalassemia, X-linked; Diamond Blackfan Anaemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Myelodysplastic syndrome (MDS), Paediatric; Anaemia; thrombocytopenia
Added phenotypes Diamond Blackfan Anaemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Myelodysplastic syndrome (MDS), Paediatric for gene: GATA1
Source North West GLH was added to GATA1.
Added phenotypes 314050 Thrombocytopenia with beta-thalassemia, X-linked for gene: GATA1
Source Yorkshire and North East GLH was added to GATA1.
Source NHS GMS was added to GATA1.
Source Expert Review Green was added to GATA1. Mode of inheritance for gene GATA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Diamond Blackfan Anaemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Myelodysplastic syndrome (MDS), Paediatric for gene: GATA1 Publications for gene GATA1 were changed from to 22706301; 24952648; 24766296; 10700180; 24453067 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: GATA1 was added gene: GATA1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GATA1 was set to