CCDC28B

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

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber CCDC28B in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	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 1.27	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Joubert syndrome
Amber CCDC28B in Mendeliome Version 1.1891	review	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 1.22 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	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 0.285	review	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 1.26 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	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 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Joubert syndrome, MONDO:0018772