Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: FLNB

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

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

GeneReviews: no mention of CSS. On Blueprint genetics CSS panel ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Phenotypes
Larsen syndrome (dominant); atelsteogenesis type 1/3; spondylo-carpel-tarsel dysplasia

Created: 5 Mar 2019, 11:33 a.m.

Panel version: 1.47

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FLNB; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.

Created: 5 Mar 2019, 11:21 a.m.

Panel version: 1.46

Details

Sources

NHS GMS

Phenotypes

spondylo-carpel-tarsel dysplasia
Larsen syndrome (dominant)
atelsteogenesis type 1/3

OMIM

603381

Clinvar variants

Variants in FLNB

Penetrance

None

Panels with this gene

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes spondylo-carpel-tarsel dysplasia; Larsen syndrome (dominant); atelsteogenesis type 1/3 for gene: FLNB

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: FLNB was added gene: FLNB was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: FLNB was set to

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: FLNB