Inherited bleeding disorders
Gene: FLNAComment on mode of inheritance: Changed MOI from 'X-LINKED... biallelic mutations in females' to 'X-LINKED... monoallelic mutations in females may cause disease'.
FLNA-related periventricular nodular heterotopia (MIM# 300049) can be associated with macrothrombocytopenia and a bleeding tendency in some cases (PMID: 16684786; 21960593; 29449050; 32299270). Affected females with heterozygous variants in FLNA have been identified indicating XLD inheritance.
The association with macrothrombocytopenia has been supported by in vitro assays and animal model (PMID: 21652675; 21960593; 30602618; 31471375)Created: 12 Jul 2021, 2:13 p.m. | Last Modified: 12 Jul 2021, 2:13 p.m.
Panel Version: 1.161
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Macrothrombocytopenia
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Macrothrombocytopenia
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: FLNA were set to
Mode of inheritance for gene: FLNA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FLNA were changed from Macrothrombocytopenia to Heterotopia, periventricular, 1, OMIM:300049; Macrothrombocytopenia
Revised 19 December 2016
FLNA was added to Inherited bleeding disorderspanel. Source: Expert Review Green
FLNA was created by ellenmcdonagh
FLNA was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene