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Severe Paediatric 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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: F12; Recommended initial gene rating: Green List (high evidence); Phenotypes: Angioedema, hereditary, type III, 610618 (3) | Factor XII deficiency, 234000 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Angioedema, hereditary, 3, OMIM:610618
  • Factor XII deficiency, OMIM:234000
OMIM
610619
Clinvar variants
Variants in F12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Mar 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: F12 were changed from Factor XII deficiency, 234000; Angioedema, hereditary, type III, 610618 to Angioedema, hereditary, 3, OMIM:610618; Factor XII deficiency, OMIM:234000