1. Genes and Genomic Entities
  2. CCDC28B

CCDC28B

coiled-coil domain containing 28B
OMIM: 610162, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Red CCDC28B in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.24

review Not set
Sources
  • Emory Genetics Laboratory
Red CCDC28B in Limb disorders


Level 2: Musculoskeletal
Version 7.22
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • {Bardet-Biedl syndrome 1, modifier of}, 209900
    Red CCDC28B in Bardet Biedl syndrome


    Level 2: Ophthalmology
    Version 2.9
    Latest signed off version: v2.0 (30 Nov 2022)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • {Bardet-Biedl syndrome 1, modifier of}, 209900
    Red CCDC28B in Cystic kidney disease


    Level 2: Renal
    Version 8.8
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Unexplained young onset end-stage renal disease

    		•  review Not set
    Sources
    • Expert Review Red
    • Expert
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease
    Red CCDC28B in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.124

    		review Not set
    Sources
    • Expert
    • Expert Review Red
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease
    Red CCDC28B in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.56

    		review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    Red CCDC28B in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.38
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • {Bardet-Biedl syndrome 1, modifier of}, 209900
    Red CCDC28B in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • {Bardet-Biedl syndrome 1, modifier of}, 209900
    • ciliopathies
    Red CCDC28B in Ophthalmological ciliopathies


    Level 2: Ophthalmology
    Version 5.15
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • UKGTN
    • Expert Review Red
    • Expert list
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ciliopathies
    • {Bardet-Biedl syndrome 1, modifier of}, 209900
    Red CCDC28B in Neurological ciliopathies


    Level 2: Neurology
    Version 6.15
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Joubert syndrome, MONDO:0018772
    Red CCDC28B in Renal ciliopathies


    Level 2: Renal
    Version 4.11
    Latest signed off version: v4.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • UKGTN
    • Expert Review Red
    • Expert list
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ciliopathies
    • {Bardet-Biedl syndrome 1, modifier of}, 209900
    No list CCDC28B in Skeletal ciliopathies


    Level 2: Musculoskeletal
    Version 6.7
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • UKGTN
    • Expert list
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ciliopathies
    • {Bardet-Biedl syndrome 1, modifier of}, 209900
    Tags
    • curated_removed