Skeletal ciliopathies
Gene: CEP120Comment on list classification: PMID:27208211 reports biallelic variants in 6 further unrelated probands with ciliopathy phenotypes. 9 variants are reported, of which 8 are novel. Two of these variants are predicted to result in loss of function (a frameshift and nonsense mutation); the remainder are a variant predicted to affect splicing and 6 missense variants. PMID:29847808 provides functional evidence that one of the missense variants (V194A) and the originally described variant (A199P) both affect the function of CEP120 in cilia formation.Created: 3 Sep 2018, 6:34 a.m.
Please note additional families and variants reported.Created: 3 Aug 2018, 6:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert Syndrome/Short-rib thoracic dysplasia with or without polydactyly
Publications
Variants in this GENE are reported as part of current diagnostic practice
Insufficient data currently - only two families with same homozgyous variantCreated: 19 Dec 2016, 5:09 p.m.
Phenotypes
616300
Publications
gene: CEP120 was added gene: CEP120 was added to Skeletal ciliopathies. Sources: Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP120 were set to 29847808 Phenotypes for gene: CEP120 were set to Short-rib thoracic dysplasia 13 with or without polydactyly; Jeune syndrome; Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel; Short-rib thoracic dysplasia 13 with or without polydactyly, 616300