CCDC28B

coiled-coil domain containing 28B
OMIM: 610162, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber CCDC28B in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

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 2.0

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

Amber CCDC28B in Mendeliome


Version 2.0

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 2.0

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 1.0

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


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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 2.0

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