Skeletal dysplasia
Gene: FLNBEnsemblGeneIds (GRCh38): ENSG00000136068
EnsemblGeneIds (GRCh37): ENSG00000136068
OMIM: 603381, Gene2Phenotype
FLNB is in 11 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association. FLNB spectrum of phenotypes ranging from mild spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome (LS) to the more severe phenotypic continuum of atelosteogenesis types I (AOI, includes Boomerang dysplasia) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD).
SCT AR - PMID: 14991055, 17360453, 20301736, 29566257 - caused by biallelic loss of function/null (frameshift/nonsense) variants.
Osteochondrodysplasias (LS, AOI, AOIII, POCD) AD - PMID: 14991055, 16801345, 20301736, 22190451 - caused by monoallelic missense/in-frame indel variants. Commonly de novo variant, particularly in the lethal more severe forms of disease. Variable phenotypes reported for some recurrent variants. Variants cluster actin-binding domain (ABD) and filamin repeats 13-17. The mechanism of disease for variants in the ABD is gain of function leading to protein aggregation, whereas variants in the filamin repeats are expected to have a different mechanism of disease.Created: 11 May 2022, 2:27 a.m. | Last Modified: 11 May 2022, 2:27 a.m.
Panel Version: 0.14081
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
spondylocarpotarsal synostosis syndrome MONDO:0010094; filamin-related bone disorder MONDO:0019690
Publications
Chern Lim (Victorian Clinical Genetics Services)
- Well-established disease gene for skeletal dysplasias.
- SCT caused by PTVs leading to LoF (PMIDs: 29566257, 22190451).
- BD-AO-LS spectrum is mainly due to GoF (PMID:22190451).Created: 24 Mar 2020, 6:53 a.m. | Last Modified: 24 Mar 2020, 6:53 a.m.
Panel Version: 0.10
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Atelosteogenesis, type I AD MIM#108720; Atelosteogenesis, type III AD MIM#108721; Boomerang dysplasia AD MIM#112310; Larsen syndrome AD MIM#150250; Spondylocarpotarsal synostosis syndrome AR MIM#272460
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Atelosteogenesis, type I 108720
- Spondylocarpotarsal synostosis syndrome 272460
- Larsen syndrome 150250
- Boomerang dysplasia 112310
- Atelosteogenesis, type III 108721
- OMIM
- 603381
- Clinvar variants
- Variants in FLNB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Short Long Bones with Advanced Carpal Bone Age
- Skeletal dysplasia
- Fetal anomalies
- Clefting disorders
- Skeletal Dysplasia_Fetal
- Prepair 1000+
- Arthrogryposis
- Multiple joint dislocations and laxity
- Mendeliome
- Intellectual disability syndromic and non-syndromic
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: flnb has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FLNB were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FLNB was added gene: FLNB was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FLNB were set to Atelosteogenesis, type I 108720; Spondylocarpotarsal synostosis syndrome 272460; Larsen syndrome 150250; Boomerang dysplasia 112310; Atelosteogenesis, type III 108721