Rare anaemia
Gene: ATRX
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 RedCreated: 22 Jul 2019, 3:32 p.m. | Last Modified: 22 Jul 2019, 3:32 p.m.
Panel Version: 0.52
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: ATRX; 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: 301040 Alpha-thalassemia/mental retardation syndrome; PMID(s): 11449489; 19444090; 17579672Created: 8 Feb 2019, 3:49 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, 3:46 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
301040 Alpha-thalassemia/mental retardation syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: atrx has been classified as Red List (Low Evidence).
Source Expert Review Green was added to ATRX. Mode of inheritance for gene ATRX was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes 301040 Alpha-thalassemia/mental retardation syndrome for gene: ATRX Rating Changed from Red List (low evidence) to Green List (high evidence)
Added phenotypes 301040 Alpha-thalassemia/mental retardation syndrome for gene: ATRX Publications for gene ATRX were changed from to 11449489; 17579672; 19444090
Source NHS GMS was added to ATRX.
gene: ATRX was added gene: ATRX was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: ATRX was set to