Inherited bleeding disorders
Gene: F13BComment on mode of inheritance: Updated from 'Monoallelic' to 'Both mono- and biallelic'. Although patients primarily present with biallelic variants, there is also evidence of monoallelic disease albeit in fewer frequency, likely due to the mild extent of symptoms resulting in many carriers going undetected until exposed to trauma.Created: 7 Jun 2022, 4:01 p.m. | Last Modified: 7 Jun 2022, 4:01 p.m.
Panel Version: 1.172
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Factor XIII deficiency
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Factor XIII deficiency
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: F13B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: F13B were changed from Factor XIII deficiency; VENOUS THROMBOSIS, SUSCEPTIBILITY TO to Factor XIIIB deficiency, OMIM:613235
Revised 19 December 2016
F13B was added to Inherited bleeding disorderspanel. Source: Other
F13B was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene F13B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
F13B was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
F13B was created by ellenmcdonagh