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Mendeliome

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.
Created: 10 Mar 2022, 11:51 p.m. | Last Modified: 10 Mar 2022, 11:51 p.m.
Panel Version: 0.11261

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fletcher factor (prekallikrein) deficiency, MIM# 612423

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
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

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KLKB1 were changed from to Fletcher factor (prekallikrein) deficiency, MIM# 612423

10 Mar 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KLKB1 were set to

10 Mar 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KLKB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

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).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KLKB1 was added gene: KLKB1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KLKB1 was set to Unknown