| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Iron metabolism disorders - NOT common HFE mutations v2.5 | ALAS2 | Arina Puzriakova Phenotypes for gene: ALAS2 were changed from Protoporphyria, erythropoietic, X-linked OMIM:300752; Anemia, sideroblastic, 1 OMIM:300751; X-linked erythropoietic protoporphyria MONDO:0010420; X-linked sideroblastic anemia 1 MONDO:0020721 to Anemia, sideroblastic, 1, OMIM:300751 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v1.6 | ALAS2 | Sarah Leigh Phenotypes for gene: ALAS2 were changed from 300752 Protoporphyria, erythropoietic, X-linked; 300751 Anemia, sideroblastic, 1; Sideroblastic anaemia - increased serum ferritin to Protoporphyria, erythropoietic, X-linked OMIM:300752; Anemia, sideroblastic, 1 OMIM:300751; X-linked erythropoietic protoporphyria MONDO:0010420; X-linked sideroblastic anemia 1 MONDO:0020721 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.51 | ALAS2 | Louise Daugherty Classified gene: ALAS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.51 | ALAS2 | 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 v0.51 | ALAS2 | Louise Daugherty Gene: alas2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.41 | ALAS2 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.39 | ALAS2 | Louise Daugherty commented on gene: ALAS2: 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 | ALAS2 | Louise Daugherty commented on gene: ALAS2: 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 | ALAS2 | PATRICIA BIGNELL reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.34 | ALAS2 | Louise Daugherty Source London South GLH was added to ALAS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.33 | ALAS2 | Louise Daugherty commented on gene: ALAS2: 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 | ALAS2 | Frances Smith reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.28 | ALAS2 | Louise Daugherty Publications for gene: ALAS2 were set to 30401706; 24003969; 30098397 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.27 | ALAS2 | Louise Daugherty Phenotypes for gene: ALAS2 were changed from 300752 Protoporphyria, erythropoietic, X-linked; 300751 Anemia, sideroblastic, 1 to 300752 Protoporphyria, erythropoietic, X-linked; 300751 Anemia, sideroblastic, 1; Sideroblastic anaemia - increased serum ferritin | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.6 | ALAS2 | Louise Daugherty reviewed gene: ALAS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.5 | ALAS2 | Carl Fratter reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.4 | ALAS2 | Louise Daugherty Source NHS GMS was added to ALAS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.3 | ALAS2 |
Louise Daugherty Source Expert Review Green was added to ALAS2. Mode of inheritance for gene ALAS2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes 300752 Protoporphyria, erythropoietic, X-linked; 300751 Anemia, sideroblastic, 1 for gene: ALAS2 Publications for gene ALAS2 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 | ALAS2 |
Louise Daugherty gene: ALAS2 was added gene: ALAS2 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ALAS2 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||