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  2. Bleeding and Platelet Disorders
  3. KLKB1
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Bleeding and Platelet Disorders

Gene: KLKB1

Amber List (moderate evidence)
KLKB1 (kallikrein B1)
EnsemblGeneIds (GRCh38): ENSG00000164344
EnsemblGeneIds (GRCh37): ENSG00000164344
OMIM: 229000, Gene2Phenotype
KLKB1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Prolonged aPTT, but asymptomatic, hence some variants have a high gnomad frequency.
Sources: Expert Review
Created: 10 Mar 2022, 11:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fletcher factor (prekallikrein) deficiency, MIM# 612423

Publications

Created: 10 Mar 2022, 11:54 p.m.

Panel version: 1.5

Details

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

History Filter Activity

10 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klkb1 has been classified as Amber List (Moderate Evidence).

10 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klkb1 has been classified as Amber List (Moderate Evidence).

10 Mar 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KLKB1 was added gene: KLKB1 was added to Bleeding and Platelet Disorders. Sources: Expert Review Mode of inheritance for gene: KLKB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLKB1 were set to 15461630; 33073460 Phenotypes for gene: KLKB1 were set to Fletcher factor (prekallikrein) deficiency, MIM# 612423 Review for gene: KLKB1 was set to AMBER