Skeletal dysplasia
Gene: FBLIM1

FBLIM1 (filamin binding LIM protein 1)
EnsemblGeneIds (GRCh38): ENSG00000162458
EnsemblGeneIds (GRCh37): ENSG00000162458
OMIM: 607747, Gene2Phenotype
FBLIM1 is in 1 panel

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Only one case reported so far?; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628

Publications

29912021

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

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: FBLIM1; Initial rating suggestion: amber
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Details

Sources

NHS GMS

Phenotypes

Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628

OMIM

607747

Clinvar variants

Variants in FBLIM1

Penetrance

None

Publications

29912021

Panels with this gene

Skeletal dysplasia

History Filter Activity

6 May 2019, Gel status: 1

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628 for gene: FBLIM1 Publications for gene FBLIM1 were changed from to 29912021

6 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: FBLIM1 was added gene: FBLIM1 was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: FBLIM1 was set to

Skeletal dysplasia Gene: FBLIM1