Thrombophilia with a likely monogenic cause

Gene: SERPIND1

Green List (high evidence)

SERPIND1 (serpin family D member 1)
EnsemblGeneIds (GRCh38): ENSG00000099937
EnsemblGeneIds (GRCh37): ENSG00000099937
OMIM: 142360, Gene2Phenotype
SERPIND1 is in 2 panels

5 reviews

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, 1:40 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
612356 Thrombophilia due to heparin cofactor II deficiency

Mandy nesbitt (Healthcare Professional)

Green List (high evidence)

Gene rating submitted by Mandy Nesbitt SheffieldDiagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North EastGLH for the GMS Haematology specialist test group
Created: 14 Feb 2019, 1:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
612356 Thrombophilia due to heparin cofactor II deficiency

Michael Mitchell (Guy's & St. Thomas' NHS Trust)

Green List (high evidence)

Gene rating submitted by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group.
Created: 7 Feb 2019, 2:43 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
612356 Thrombophilia due to heparin cofactor II deficiency

Louise Daugherty (Genomics England Curator)

I don't know

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: SERPIND1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612356 Thrombophilia due to heparin cofactor II deficiency; PMID(s): none submitted
Created: 18 Feb 2019, 1:51 p.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: SERPIND1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612356 Thrombophilia due to heparin cofactor II deficiency; PMID(s): none submitted
Created: 14 Feb 2019, 2:01 p.m.
Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPIND1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612356 Thrombophilia due to heparin cofactor II deficiency; PMID(s): none submitted
Created: 7 Feb 2019, 2:49 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: SERPIND1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612356 Thrombophilia due to heparin cofactor II deficiency; PMID(s): 2647747; 8902986; 15337701
Created: 5 Feb 2019, 7:23 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.
Created: 5 Feb 2019, 7:23 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Thrombophilia due to heparin cofactor II deficiency, OMIM:612356
OMIM
142360
Clinvar variants
Variants in SERPIND1
Penetrance
None
Panels with this gene

History Filter Activity

25 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SERPIND1 were changed from 612356 Thrombophilia due to heparin cofactor II deficiency to Thrombophilia due to heparin cofactor II deficiency, OMIM:612356

18 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 612356 Thrombophilia due to heparin cofactor II deficiency for gene: SERPIND1

18 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to SERPIND1.

14 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 612356 Thrombophilia due to heparin cofactor II deficiency for gene: SERPIND1

14 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to SERPIND1.

7 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 612356 Thrombophilia due to heparin cofactor II deficiency for gene: SERPIND1

7 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to SERPIND1.

5 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SERPIND1.

5 Feb 2019, Gel status: 3

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

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SERPIND1. Mode of inheritance for gene SERPIND1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes 612356 Thrombophilia due to heparin cofactor II deficiency for gene: SERPIND1 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: SERPIND1 was added gene: SERPIND1 was added to Thrombophilia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SERPIND1 was set to