PanelApp
  1. Genes and Genomic Entities
  2. CCDC28B

CCDC28B

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber CCDC28B in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.94

2 reviews Other
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • {Bardet-Biedl syndrome 1, modifier of}, MIM#209900
  • Joubert syndrome

Amber CCDC28B in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.31

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Joubert syndrome

Amber CCDC28B in Mendeliome


Version 1.3512

3 reviews Other
Sources
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • {Bardet-Biedl syndrome 1, modifier of}, MIM#209900

Red CCDC28B in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 1.45

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel

    		•  1 review Other
    Sources
    • Expert Review Red
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • {Bardet-Biedl syndrome 1, modifier of}, MIM#209900

    Red CCDC28B in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    • Expert Review Red
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • {Bardet-Biedl syndrome 1, modifier of}, 209900

    Red CCDC28B in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.60

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews Other
    Sources
    • Expert Review Red
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • {Bardet-Biedl syndrome 1, modifier of}, 209900

    Amber CCDC28B in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Joubert syndrome, MONDO:0018772