Inherited bleeding disorders

Gene: KNG1

Green List (high evidence)

KNG1 (kininogen 1)
EnsemblGeneIds (GRCh38): ENSG00000113889
EnsemblGeneIds (GRCh37): ENSG00000113889
OMIM: 612358, Gene2Phenotype
KNG1 is in 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed rating from Grey to Green based on expert list/supporting information from the NIHRBR-RD BRIDGE project
Created: 9 Aug 2017, 1:31 p.m.
Comment on publications: added recent publication to support phenotype
Created: 9 Aug 2017, 1:30 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Current level of evidence and expert review, High level of confidence as disease-causing gene. Proven in 3 unrelated pedigrees via cosegregation analysis or less than 3 or 1 large pedigree supported with functional studies (animal model). Ready for clinical reporting. Previous comments from expert reviewer, observed in the NIHRBR-RD BRIDGE cohort.
Created: 9 Aug 2017, 12:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coagulaton disorder; High Molecular Weight Kininogen Deficiency

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coagulaton disorder
  • High Molecular Weight Kininogen Deficiency
OMIM
612358
Clinvar variants
Variants in KNG1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Aug 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for KNG1 were set to 7901207;28445521; 28053049

9 Aug 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

KNG1 was added to Inherited bleeding disorderspanel. Sources: Expert Review Green,BRIDGE Study Tier 1 Gene

9 Aug 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

KNG1 was created by BRIDGE