BBS10

Bardet-Biedl syndrome 10
OMIM: 610148, Gene2Phenotype

22 panels

Panel Reviews Mode of inheritance Details
22 panels

Red BBS10 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.39

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green BBS10 in Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 2.43
Latest signed off version: v2.2 (18 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • obesity
  • Bardet-Biedl syndrome 10, OMIM:615987

Red BBS10 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.12

review Not set
Sources
  • Emory Genetics Laboratory

Green BBS10 in Limb disorders


Version 2.65
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly
    • Bardet Biedl syndrome 10, 615987

    No list BBS10 in Ductal plate malformation


    Version 1.18

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome 10 (615987)
    Tags
    • curated_removed

    Green BBS10 in Bardet Biedl syndrome


    Version 1.11
    Latest signed off version: v1.2 (18 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Other
    • Expert Review Green
    Phenotypes
    • Bardet Biedl syndrome 10, 615987

    Red BBS10 in Cystic kidney disease

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 2.26
    Latest signed off version: v2.2 (19 Feb 2020)

    Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review Not set
    Sources
    • Expert Review Red
    • Expert
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease

    Red BBS10 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.97

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review Not set
    Sources
    • Expert
    • Expert Review Red
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease

    Red BBS10 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.33

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies

    Green BBS10 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.137
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Polydactyly
    • Bardet Biedl syndrome 10, 615987

    Green BBS10 in Unexplained paediatric onset end-stage renal disease


    Version 1.20
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease
    • Bardet-Biedl syndrome 10 615987

    Green BBS10 in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BARDET-BIEDL SYNDROME TYPE 10

    Green BBS10 in DDG2P


    Version 2.49
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BARDET-BIEDL SYNDROME TYPE 10 209900

    Green BBS10 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Bardet-Biedl syndrome 10, 209900
    • BARDET-BIEDL SYNDROME TYPE 10 (BBS10)

    Green BBS10 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.219
    Latest signed off version: v2.195 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Eye Disorders
    • Bardet-Biedl syndrome 10, 615987

    Red BBS10 in Structural eye disease


    Version 1.83
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Bardet-Biedl syndrome10, 615987
    • Eye Disorders

    Green BBS10 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.146

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Eligibility statement prior genetic testing
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bardet‐Biedl syndrome 10

    Green BBS10 in Ophthalmological ciliopathies


    Version 1.19
    Latest signed off version: v1.3 (19 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Eligibility statement prior genetic testing
    • Expert list
    • Expert Review Green
    Phenotypes
    • Bardet Biedl syndrome 10

    Green BBS10 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.42
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Eligibility statement prior genetic testing
    • Expert list
    • Expert Review Green
    Phenotypes
    • Bardet Biedl syndrome 10

    No list BBS10 in Skeletal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.10
    Latest signed off version: v1.2 (19 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Eligibility statement prior genetic testing
    • Expert list
    Phenotypes
    • Bardet Biedl syndrome 10
    Tags
    • curated_removed

    Red BBS10 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.157
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green BBS10 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome 10, 615987