CCDC28B

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

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red CCDC28B in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.20	review	Not set	Sources Emory Genetics Laboratory
Red CCDC28B in Limb disorders Version 4.23 Latest signed off version: v4.0 (22 Mar 2023) 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 Version 2.4 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 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Version 4.24 Latest signed off version: v4.0 (22 Mar 2023) 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 CCDC28B in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.119 Component of the following Super Panels: Renal superpanel - broad	review	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease
Red CCDC28B in Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.42	review	Not set	Sources Emory Genetics Laboratory Phenotypes ciliopathies
Red CCDC28B in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.65 Latest signed off version: v4.0 (22 Mar 2023) 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 Unexplained young onset end-stage renal disease Version 3.42 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad	review	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease
Red CCDC28B in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.172	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 Version 3.7 Latest signed off version: v3.0 (22 Mar 2023) 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 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 3.20 Latest signed off version: v3.0 (22 Mar 2023) 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 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 3.5 Latest signed off version: v3.0 (22 Mar 2023) 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 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 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 3.23 Latest signed off version: v3.1 (22 Mar 2023) 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