Iron metabolism disorders - NOT common HFE mutations

Gene: SERPINA1

Red List (low evidence)

SERPINC1, SHOULD BE SERPINA1 (alpha 1 anti-trypsin deficiency) suggest remove SERPINC1 and amber or red for SERPINA1

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

Green List (high evidence)

Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.

Created: 18 Feb 2019, 11:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
613490 ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD

Green List (high evidence)

Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.

Created: 13 Feb 2019, 12:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
613490 ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD

Variants in this GENE are reported as part of current diagnostic practice

I don't know

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.

Created: 22 Jul 2019, 3:13 p.m. | Last Modified: 22 Jul 2019, 3:13 p.m.

Panel Version: 0.47

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

Created: 28 May 2019, 2:08 p.m.

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.

Created: 28 May 2019, 10:12 a.m.

Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINC1; 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: 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD; PMID(s): none submitted

Created: 18 Feb 2019, 11:49 a.m.

Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINC1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD; PMID(s): none submitted

Created: 13 Feb 2019, 12:39 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: SERPINC1; 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: 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD; PMID(s): 27296815; 18210110

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.

There is an error in this genes name: SERPINA1 not SERPINC1 which is Antithrombin 3 deficiency

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