Rare anaemiaGene: ADA2
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 in this panel and there is enough evidence to rate this gene Green.
Created: 22 Jul 2019, 3:31 p.m. | Last Modified: 22 Jul 2019, 3:31 p.m.
Panel Version: 0.51
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: ADA2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: not submitted ; Phenotypes: Diamond Blackfan anaemia; PMID(s): none submitted
Created: 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.
Mode of inheritance for gene: ADA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: ada2 has been classified as Green List (High Evidence).
Source NHS GMS was added to ADA2.
Source Expert Review Green was added to ADA2. Added phenotypes Diamond Blackfan anaemia for gene: ADA2 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: ADA2 was added gene: ADA2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ADA2 was set to