Inherited bleeding disorders

Gene: KLKB1

Green List (high evidence)

KLKB1 (kallikrein B1)
EnsemblGeneIds (GRCh38): ENSG00000164344
EnsemblGeneIds (GRCh37): ENSG00000164344
OMIM: 229000, Gene2Phenotype
KLKB1 is in 3 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Created: 18 Sep 2018, 11:49 a.m.
New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SSC meeting Dublin 2018.
Sources: Expert list
Created: 18 Sep 2018, 11:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fletcher factor (prekallikrein) deficiency, 612423; Fletcher syndrome

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Fletcher factor (prekallikrein) deficiency, 612423
  • Fletcher syndrome
  • Coagulation disorder
OMIM
229000
Clinvar variants
Variants in KLKB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: KLKB1 were changed from Fletcher factor (prekallikrein) deficiency, 612423; Fletcher syndrome to Fletcher factor (prekallikrein) deficiency, 612423; Fletcher syndrome; Coagulation disorder

18 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: klkb1 has been classified as Green List (High Evidence).

18 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: KLKB1 was added gene: KLKB1 was added to Inherited bleeding disorders. Sources: Expert list Mode of inheritance for gene: KLKB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLKB1 were set to 17598838; 14652634; 11344577 Phenotypes for gene: KLKB1 were set to Fletcher factor (prekallikrein) deficiency, 612423; Fletcher syndrome Review for gene: KLKB1 was set to GREEN gene: KLKB1 was marked as current diagnostic