FLNB |
- 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)