Iron metabolism disorders - NOT common HFE mutations
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.Created: 28 May 2019, 1:11 p.m.
PRESENT WITH IRON OVERLOADCreated: 28 May 2019, 1:11 p.m.
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, 3:16 p.m. | Last Modified: 22 Jul 2019, 3:16 p.m.
Panel Version: 0.51
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 GreenCreated: 28 May 2019, 2:08 p.m.
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 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: ALAS2; Suggested initial 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: 300751 Anemia, sideroblastic, 1; 300752 Protoporphyria, erythropoietic, X-linked; PMID(s): 30401706; 30098397; 24003969Created: 5 Feb 2019, 5:51 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.
March 2019 Additional comments
Present with moderate to severe iron overload with mild-severe anaemia and this is the phenotype the clinicians pick up through the haematology/biochemistry screeningCreated: 5 Feb 2019, 5:50 p.m.
Variants in this GENE are reported as part of current diagnostic practice
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
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
Gene: alas2 has been classified as Green List (High Evidence).
Source London South GLH was added to ALAS2.
Publications for gene: ALAS2 were set to 30401706; 24003969; 30098397
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
Source NHS GMS was added to ALAS2.
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)
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