GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: FLNB

FLNB (filamin B)
EnsemblGeneIds (GRCh38): ENSG00000136068
EnsemblGeneIds (GRCh37): ENSG00000136068
OMIM: 603381, Gene2Phenotype
FLNB is in 9 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Filamin group and related disorder gp of SD - many cases reported, truncating and missense variants.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Atelosteogenesis, type I 108720; Atelosteogenesis, type III 108721; Boomerang dysplasia 112310; Larsen syndrome 150250; Spondylocarpotarsal synostosis syndrome 272460

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Spondylocarpotarsal synostosis syndrome 272460
Atelosteogenesis, type III 108721
Boomerang dysplasia 112310
Atelosteogenesis, type I 108720
Larsen syndrome 150250

OMIM

603381

Clinvar variants

Variants in FLNB

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: FLNB was added gene: FLNB was added to GMS Musculoskeletal specialist test group 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 Spondylocarpotarsal synostosis syndrome 272460; Atelosteogenesis, type III 108721; Boomerang dysplasia 112310; Atelosteogenesis, type I 108720; Larsen syndrome 150250

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: FLNB