Craniosynostosis

Gene: FLNB

Red List (low evidence)

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

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.

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