| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Iron metabolism disorders - NOT common HFE mutations v1.16 | GLRX5 | Sarah Leigh Phenotypes for gene: GLRX5 were changed from 616860 Anemia, sideroblastic, 3, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin to Anemia, sideroblastic, 3, pyridoxine-refractory OMIM:616860 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.50 | GLRX5 | Louise Daugherty Classified gene: GLRX5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.50 | GLRX5 | Louise Daugherty Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.50 | GLRX5 | Louise Daugherty Gene: glrx5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.39 | GLRX5 | Louise Daugherty commented on gene: GLRX5: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.39 | GLRX5 | Louise Daugherty commented on gene: GLRX5: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.37 | ABCB7 | PATRICIA BIGNELL commented on gene: ABCB7: I had a discussion with Cambridge and Dr WJH Griffiths to see what he recommends for patients with iron overload; advice was to include SLC25A38, GLRX5, ALAS2 and ABCB7. We have found 8 patients with Iron overload that have a variant in the above genes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.37 | ALAS2 | PATRICIA BIGNELL commented on gene: ALAS2: I had a discussion with Cambridge and Dr WJH Griffiths to see what he recommends for patients with iron overload; advice was to include SLC25A38, GLRX5, ALAS2 and ABCB7. We have found 8 patients with Iron overload that have a variant in the above genes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.37 | GLRX5 | PATRICIA BIGNELL commented on gene: GLRX5: I had a discussion with Cambridge and Dr WJH Griffiths to see what he recommends for patients with iron overload; advice was to include SLC25A38, GLRX5, ALAS2 and ABCB7. We have found 8 patients with Iron overload that have a variant in the above genes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.37 | SLC25A38 | PATRICIA BIGNELL commented on gene: SLC25A38: I had a discussion with Cambridge and Dr WJH Griffiths to see what he recommends for patients with iron overload; advice was to include SLC25A38, GLRX5, ALAS2 and ABCB7. We have found 8 patients with Iron overload that have a variant in the above genes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.37 | GLRX5 | PATRICIA BIGNELL reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.34 | GLRX5 | Louise Daugherty Source London South GLH was added to GLRX5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.33 | GLRX5 | Louise Daugherty commented on gene: GLRX5: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.32 | GLRX5 | Frances Smith reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.30 | GLRX5 | Louise Daugherty Publications for gene: GLRX5 were set to 30401706; 24003969; 30098397 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.29 | GLRX5 | Louise Daugherty Phenotypes for gene: GLRX5 were changed from 616860 Anemia, sideroblastic, 3, pyridoxine-refractory to 616860 Anemia, sideroblastic, 3, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.6 | GLRX5 | Louise Daugherty reviewed gene: GLRX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.5 | GLRX5 | Carl Fratter reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.4 | GLRX5 | Louise Daugherty Source NHS GMS was added to GLRX5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.3 | GLRX5 |
Louise Daugherty Source Expert Review Green was added to GLRX5. Mode of inheritance for gene GLRX5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 616860 Anemia, sideroblastic, 3, pyridoxine-refractory for gene: GLRX5 Publications for gene GLRX5 were changed from to 30401706; 24003969; 30098397 Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.2 | GLRX5 |
Louise Daugherty gene: GLRX5 was added gene: GLRX5 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GLRX5 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||