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  3. CEP120
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Skeletal ciliopathies

Gene: CEP120

Green List (high evidence)
CEP120 (centrosomal protein 120)
EnsemblGeneIds (GRCh38): ENSG00000168944
EnsemblGeneIds (GRCh37): ENSG00000168944
OMIM: 613446, Gene2Phenotype
CEP120 is in 10 panels

3 reviews

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Comment 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.
Created: 3 Sep 2018, 6:34 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 1.46

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Created: 3 Aug 2018, 6:53 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 1.45

Richard Scott (Genomics England Curator)

Insufficient data currently - only two families with same homozgyous variant
Created: 19 Dec 2016, 5:09 p.m.

Phenotypes
616300

Publications

Created: 19 Dec 2016, 5:09 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.395

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
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
OMIM
613446
Clinvar variants
Variants in CEP120
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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