CEP120

centrosomal protein 120
OMIM: 613446, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green CEP120 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly 616300 ORPHA:474 Jeune syndrome ORPHA:475 Joubert syndrome ORPHA:220493 Joubert syndrome with ocular defect
No list CEP120 in Limb disorders Level 2: Musculoskeletal Version 7.22 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
No list CEP120 in Ductal plate malformation Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 31 (617761) Short-rib thoracic dysplasia 13 with or without polydactyly (616300) Tags curated_removed
Green CEP120 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.38 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Expert list Phenotypes Joubert syndrome 213300 Short-rib thoracic dysplasia 13 with or without polydactyly 616300
Green CEP120 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 31 Short-rib thoracic dysplasia 13 with or without polydactyly
Red CEP120 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.4 Latest signed off version: v6.0 (30 Apr 2025)	review	Not set	Sources NHS GMS Phenotypes short rib thoracic dysplasia 13 +/- polydactyly Joubert syndrome 31
Green CEP120 in Intellectual disability Level 2: Developmental disorders Version 9.345 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 31 (617761) Short-rib thoracic dysplasia 13 with or without polydactyly (616300)
Green CEP120 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.180	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Orphanet UKGTN Radboud University Medical Center, Nijmegen Expert list Phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel Jeune syndrome Short-rib thoracic dysplasia 13 with or without polydactyly
Green CEP120 in Skeletal ciliopathies Level 2: Musculoskeletal Version 6.7 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Other Expert Review Green Phenotypes 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
Red CEP120 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.18 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH