Bleeding and platelet disorders

Gene: F12

Green List (high evidence)

F12 (coagulation factor XII)
EnsemblGeneIds (GRCh38): ENSG00000131187
EnsemblGeneIds (GRCh37): ENSG00000131187
OMIM: 610619, Gene2Phenotype
F12 is in 6 panels

6 reviews

Zornitza Stark (Australian Genomics)

I don't know

No abnormal bleeding, asymptomatic prolonged PTT.
Created: 12 Aug 2020, 3:50 a.m. | Last Modified: 12 Aug 2020, 3:50 a.m.
Panel Version: 1.6

Phenotypes
Factor XII deficiency, MIM# 234000

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, 11:23 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
234000 Factor XII deficiency, hereditary Angioedema type III

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, 11:32 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
234000 Factor XII deficiency, hereditary Angioedema type III

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, 1:21 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
234000 Factor XII deficiency, hereditary Angioedema type III

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

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: F12; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; PMID(s): none submitted
Created: 18 Feb 2019, 11:28 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: F12; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; PMID(s): none submitted
Created: 13 Feb 2019, 11:34 a.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: F12; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; PMID(s): none submitted
Created: 7 Feb 2019, 1:28 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: F12; Suggested intial gene rating: Green List (high evidence); Are variants in this gene as part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 234000 Factor XII deficiency; 610618 Hereditary Angioedema type III; PMID(s): 27003566; 9354665; 20386432
Created: 5 Feb 2019, 1:26 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, 11:19 a.m.

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • 234000 Factor XII deficiency
  • 234000 Factor XII deficiency, hereditary Angioedema type III
  • 610618 Hereditary Angioedema type III
OMIM
610619
Clinvar variants
Variants in F12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 234000 Factor XII deficiency, hereditary Angioedema type III for gene: F12

18 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to F12.

13 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 234000 Factor XII deficiency, hereditary Angioedema type III for gene: F12

13 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to F12.

7 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 234000 Factor XII deficiency, hereditary Angioedema type III for gene: F12

7 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to F12.

5 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to F12.

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 F12. Mode of inheritance for gene F12 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes 234000 Factor XII deficiency; 610618 Hereditary Angioedema type III for gene: F12 Publications for gene F12 were changed from to 9354665; 20386432; 27003566 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: F12 was added gene: F12 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: F12 was set to