Inherited bleeding disorders
Gene: KLKB1
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 listCreated: 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
Phenotypes for gene: KLKB1 were changed from Fletcher factor (prekallikrein) deficiency, 612423; Fletcher syndrome to Fletcher factor (prekallikrein) deficiency, 612423; Fletcher syndrome; Coagulation disorder
Gene: klkb1 has been classified as Green List (High Evidence).
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