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Gene: FLNB

FLNB (filamin B)
EnsemblGeneIds (GRCh38): ENSG00000136068
EnsemblGeneIds (GRCh37): ENSG00000136068
OMIM: 603381, Gene2Phenotype
FLNB is in 11 panels

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

Spondylocarpotarsal synostosis syndrome (SCT) is characterized by disproportionate short stature and spinal deformity. Clinical features include clubfeet, facial dysmorphism, dental enamel hypoplasia, cleft palate, joint laxity, and conductive hearing loss. Characteristic radiologic findings include block vertebrae and carpal and tarsal fusion. Delay in ossification of the epiphyses of carpal bones and epiphyseal dysplasia of the femur have been observed

Well-established gene-disease association. Associated with a number of skeletal dysplasias relevant to a pre-natal setting.

The one recessive condition is caused by biallelic loss-of-function variants and is associated with spondylocarpotarsal synostosis syndrome. The other autosomal dominant FLNB-related disorders are mostly caused by gain-of-function variants.
Created: 15 Oct 2024, 10:33 p.m. | Last Modified: 15 Oct 2024, 10:33 p.m.

Panel Version: 1.420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylocarpotarsal synostosis syndrome, MIM#272460

Publications

Created: 15 Oct 2024, 10:33 p.m.
Last Modified: 15 Oct 2024, 10:33 p.m.
Panel version: 1.420

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Mackenzie's Mission

Phenotypes

Spondylocarpotarsal synostosis syndrome, 272460 (3)

OMIM

603381

Clinvar variants

Variants in FLNB

Penetrance

None

Publications

Panels with this gene

History Filter Activity

20 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: flnb has been classified as Green List (High Evidence).

20 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: FLNB were set to

1 Jun 2022, Gel status: 3

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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FLNB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLNB were set to Spondylocarpotarsal synostosis syndrome, 272460 (3)

Prepair 1000+ Gene: FLNB