1. Genes and Genomic Entities
  2. FLNB

FLNB

filamin B
OMIM: 603381, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Red FLNB in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Green FLNB in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.31
Latest signed off version: v5.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Green FLNB in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Spondylocarpotarsal synostosis syndrome 272460
    • Atelosteogenesis, type III 108721
    • Boomerang dysplasia 112310
    • Atelosteogenesis, type I 108720
    • Larsen syndrome 150250
    Green FLNB in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ATELOSTEOGENESIS TYPE 1
    • BOOMERANG DYSPLASIA
    • SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
    • AUTOSOMAL DOMINANT LARSEN SYNDROME
    • ATELOSTEOGENESIS TYPE 3
    Red FLNB in Rare syndromic craniosynostosis or isolated multisuture synostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 4.180
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • NHS GMS
    Phenotypes
    • spondylo-carpel-tarsel dysplasia
    • Larsen syndrome (dominant)
    • atelsteogenesis type 1/3
    No list FLNB in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    Tags
    • curated_removed
    Green FLNB in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AUTOSOMAL DOMINANT LARSEN SYNDROME 150250
    • ATELOSTEOGENESIS TYPE 3 108721
    • ATELOSTEOGENESIS TYPE 1 108720
    • BOOMERANG DYSPLASIA 112310
    • SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 272460
    Green FLNB in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.110
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Skeletal dysplasia with midline cleft palate
    • Orofacial Clefting with skeletal features
    • Spondylocarpotarsal synostosis syndrome (includes clefting), BIALLELIC, autosomal or pseudoautosomal, 272460
    • Larsen syndrome (includes clefting) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 150250
    • Atelosteogenesis, type I (includes clefting), MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 108720
    • Atelosteogenesis, type III MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown (includes clefting), 108721
    Red FLNB in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Spondylocarpotarsal synostosis syndrome, 272460
    • Larsen syndrome, 150250
    • Atelosteogenesis, type I, 108720
    • Atelosteogenesis, type III, 108721
    • Boomerang dysplasia, 112310
    Green FLNB in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spondylocarpotarsal synostosis syndrome, 272460
    • Atelosteogenesis, type III, 108721
    • Larsen syndrome, 150250
    • Boomerang dysplasia, 112310
    • Atelosteogenesis, type I, 108720