GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: CEP120EnsemblGeneIds (GRCh38): ENSG00000168944
EnsemblGeneIds (GRCh37): ENSG00000168944
OMIM: 613446, Gene2Phenotype
CEP120 is in 10 panels
2 reviews
Eleanor Williams (Genomics England Curator)
Comment on list classification: Changed rating to green, as Tracy Lester confirmed that it should have a green rating.Created: 18 Apr 2019, 1:55 p.m.
Tracy Lester (Genetics laboratory, Oxford UK)
There are enough cases with specific skeletal phenotype (short rib thoracic dysplasia +/- polydactyly) to call greenCreated: 18 Apr 2019, 1:53 p.m.
Neither disorder listed in SD Nosology paper. AR. 616300 - 4 cases reported by Shaheen et al 2015, with 2 more cases reported 2016. All fetal. Gene also associated with Joubert syndrome type 31.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 13 with or without polydactyly 616300; Joubert syndrome 213300
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Joubert syndrome 213300
- Short-rib thoracic dysplasia 13 with or without polydactyly 616300
- OMIM
- 613446
- Clinvar variants
- Variants in CEP120
- Penetrance
- None
- Panels with this gene
-
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Skeletal ciliopathies
- Intellectual disability
- Ductal plate malformation
- Limb disorders
- Fetal anomalies
- Skeletal dysplasia
- Thoracic dystrophies
- Childhood onset dystonia, chorea or related movement disorder
- Rare multisystem ciliopathy disorders
History Filter Activity
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: cep120 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: CEP120 was added gene: CEP120 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP120 were set to Joubert syndrome 213300; Short-rib thoracic dysplasia 13 with or without polydactyly 616300