• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
FLNB (HGNC:3755) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
filamin B
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
FLN1L, LRS1
Alias symbols
TAP, TABP, ABP-278, FH1
%HI
12.25(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.44(Read more about gnomAD LOEUF score)
Cytoband
3p14.3
Genomic Coordinates
GRCh37/hg19: chr3:57994149-58157978 NCBI Ensembl UCSC
GRCh38/hg38: chr3:58008422-58172251 NCBI Ensembl UCSC
MANE Select Transcript
NM_001457.4 ENST00000295956.9 (Read more about MANE Select)
Function
Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Various interactions and localizations of isoforms affect myotube morphology and myogenesis. Isoform 6 accelerates muscle differentiation in vitro. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-18155
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
07/25/2013

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Krakow D et al. 2004 PMID: 14991055 Nonsense mutations affecting both alleles of FLNB have been shown to cause autosomal recessive spondylocarpotarsal synostosis syndrome (OMIM 272460). This study also identified autosomal dominant missense mutations or in-frame deletions are associated with a spectrum of skeletal dysplasias which include atelosteogenesis (AO) type I (OMIM 108720), atelosteogenesis type III (OMIM 108721) and Larsen syndrome (OMIM 150250). Bicknell LS et al. 2005 PMID: 15994868 identified heterozygous missense mutations of FLNB in patients with autosomal dominant boomerang dysplasia (OMIM 112310). Per GeneReviews, the "Larsen syndrome – AO spectrum of conditions...are caused by normal expression of a structurally abnormal FLNB protein. " There is no evidence at this time to suggest that loss of a single copy of FLNB causes an abnormal phenotype. As such, we are giving this gene a score of 0 (in relation to the autosomal dominant phenotypes), and intend to reevaluate if additional evidence becomes available.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
At the time of this review, there is no evidence to suggest focal duplications of this gene cause an abnormal phenotype.

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)