Iron metabolism disorders

Gene: SERPINA1

Red List (low evidence)

SERPINA1 (serpin family A member 1)
EnsemblGeneIds (GRCh38): ENSG00000197249
EnsemblGeneIds (GRCh37): ENSG00000197249
OMIM: 107400, Gene2Phenotype
SERPINA1 is in 7 panels

5 reviews

PATRICIA BIGNELL (Oxford Hospitals NHS Foundation Trust)

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.

Steve Keeney (Central Manchester Foundation Trust)

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

Mandy nesbitt (Healthcare Professional)

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

Louise Daugherty (Genomics England Curator)

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.

Carl Fratter (Oxford University Hospitals NHS Trust)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • NHS GMS
  • Yorkshire and North East GLH
  • North West GLH
  • Expert list
Phenotypes
  • Emphysema due to AAT deficiency OMIM:613490
  • alpha 1-antitrypsin deficiency MONDO:0013282
OMIM
107400
Clinvar variants
Variants in SERPINA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

3 Mar 2021, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

3 Mar 2021, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SERPINA1 were changed from A1ATD; 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY to ALPHA-1-ANTITRYPSIN DEFICIENCY P

22 Jul 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: serpina1 has been classified as Red List (Low Evidence).

28 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to SERPINA1.

28 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SERPINA1.

28 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to SERPINA1.

28 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to SERPINA1.

28 May 2019, Gel status: 4

Changed Gene Name

Louise Daugherty (Genomics England Curator)

SERPINC1 was changed to SERPINA1

28 May 2019, Gel status: 4

Removed Source, Removed Source, Removed Source, Removed Source, Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was removed from SERPINC1. Source Yorkshire and North East GLH was removed from SERPINC1. Source NHS GMS was removed from SERPINC1. Source Wessex and West Midlands GLH was removed from SERPINC1. Source Expert list was added to SERPINC1.

18 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes A1ATD; 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY for gene: SERPINC1

18 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to SERPINC1.

13 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes A1ATD; 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY for gene: SERPINC1

13 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to SERPINC1.

5 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SERPINC1.

5 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SERPINC1. Mode of inheritance for gene SERPINC1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes A1ATD; 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY for gene: SERPINC1 Publications for gene SERPINC1 were changed from to 18210110; 27296815 Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SERPINC1 was added gene: SERPINC1 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SERPINC1 was set to