Iron metabolism disorders - NOT common HFE mutations

Gene: SLC25A38

Green List (high evidence)

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 OVERLOAD FIRST

Created: 28 May 2019, 1:11 p.m.

Green List (high evidence)

I don't know

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, 3:15 p.m. | Last Modified: 22 Jul 2019, 3:15 p.m.

Panel Version: 0.49

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

Created: 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: SLC25A38; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; PMID(s): 19412178; 21393332; 24323989

Created: 5 Feb 2019, 5:51 p.m.

Green List (high evidence)

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 severe anaemia and this is the phenotype the clinicians pick up through the haematology/biochemistry screening. The clinicians are not sure whether the iron overload is due to transfusions

Created: 5 Feb 2019, 5:50 p.m.