Limb disorders
Gene: CEP120EnsemblGeneIds (GRCh38): ENSG00000168944
EnsemblGeneIds (GRCh37): ENSG00000168944
OMIM: 613446, Gene2Phenotype
CEP120 is in 10 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 10:43 p.m.
Details
- Sources
-
- Expert Review Removed
- Victorian Clinical Genetics Services
- Phenotypes
-
- Polydactyly
- Tags
- OMIM
- 613446
- Clinvar variants
- Variants in CEP120
- Penetrance
- None
- Panels with this gene
-
- Limb disorders
- Ductal plate malformation
- Skeletal ciliopathies
- Fetal anomalies
- Skeletal dysplasia
- Thoracic dystrophies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: CEP120.
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Eleanor Williams: Comment on list classification
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: cep120 has been removed from the panel.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: cep120 has been removed from the panel.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Removed was added to CEP120. Rating Changed from Red List (low evidence) to No List (delete)
Added New Source
Ellen McDonagh (Genomics England Curator)CEP120 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)CEP120 was created by Ellen McDonagh