Skeletal dysplasia
Gene: FLNB
Filamin group and related disorder gp of SD - many cases reported, truncating and missense variants.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 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
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; Initial rating suggestion: GreenCreated: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:35 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:49 p.m.
Tier 1Created: 17 Jun 2016, 8:04 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
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Spondylocarpotarsal synostosis syndrome 272460; Atelosteogenesis, type III 108721; Boomerang dysplasia 112310; Atelosteogenesis, type I 108720; Larsen syndrome 150250 for gene: FLNB
Source NHS GMS was added to FLNB. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for FLNB were set to Atelosteogenesis, type I 108720; Atelosteogenesis, type III 108721; Boomerang dysplasia 112310; Larsen syndrome 150250; Spondylocarpotarsal synostosis syndrome 272460
Mode of inheritance for FLNB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
FLNB was created by sleigh
FLNB was added to Unexplained skeletal dysplasiapanel. Sources: