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Iron metabolism disorders - NOT common HFE mutations v1.33 SERPINA1 Sarah Leigh Phenotypes for gene: SERPINA1 were changed from ALPHA-1-ANTITRYPSIN DEFICIENCY OMIM:613490; alpha 1-antitrypsin deficiency MONDO:0013282 to Emphysema due to AAT deficiency OMIM:613490; alpha 1-antitrypsin deficiency MONDO:0013282
Iron metabolism disorders - NOT common HFE mutations v1.32 SERPINA1 Sarah Leigh Phenotypes for gene: SERPINA1 were changed from ALPHA-1-ANTITRYPSIN DEFICIENCY P to ALPHA-1-ANTITRYPSIN DEFICIENCY OMIM:613490; alpha 1-antitrypsin deficiency MONDO:0013282
Iron metabolism disorders - NOT common HFE mutations v1.31 SERPINA1 Sarah Leigh Phenotypes for gene: SERPINA1 were changed from A1ATD; 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY to ALPHA-1-ANTITRYPSIN DEFICIENCY P
Iron metabolism disorders - NOT common HFE mutations v0.47 SERPINA1 Louise Daugherty Classified gene: SERPINA1 as Red List (low evidence)
Iron metabolism disorders - NOT common HFE mutations v0.47 SERPINA1 Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Red.
Iron metabolism disorders - NOT common HFE mutations v0.47 SERPINA1 Louise Daugherty Gene: serpina1 has been classified as Red List (Low Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.39 SERPINA1 Louise Daugherty commented on gene: SERPINA1: 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 Red
Iron metabolism disorders - NOT common HFE mutations v0.37 SERPINA1 PATRICIA BIGNELL reviewed gene: SERPINA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.36 SERPINA1 Louise Daugherty Source Wessex and West Midlands GLH was added to SERPINA1.
Iron metabolism disorders - NOT common HFE mutations v0.36 SERPINA1 Louise Daugherty Source NHS GMS was added to SERPINA1.
Iron metabolism disorders - NOT common HFE mutations v0.36 SERPINA1 Louise Daugherty Source Yorkshire and North East GLH was added to SERPINA1.
Iron metabolism disorders - NOT common HFE mutations v0.36 SERPINA1 Louise Daugherty Source North West GLH was added to SERPINA1.
Iron metabolism disorders - NOT common HFE mutations v0.35 SERPINA1 Louise Daugherty commented on gene: SERPINA1: Changed gene listed on panel from SERPINC1 to SERPINA1, incorrect gene listed by North West GLH, Yorkshire and North East GLH and Wessex and the West Midlands GLH. The phenotype is 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD which matches SERPINA1. Gene changed after comments from Carl Fratter and Patrica Bignell highlighting the error.
Iron metabolism disorders - NOT common HFE mutations v0.35 SERPINA1 Louise Daugherty SERPINC1 was changed to SERPINA1