This Panel is marked as Deleted
Kidneyome_SuperPanel_VCGS
Gene: CEP120
CEP120 (centrosomal protein 120)
EnsemblGeneIds (GRCh38): ENSG00000168944
EnsemblGeneIds (GRCh37): ENSG00000168944
OMIM: 613446, Gene2Phenotype
CEP120 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000168944
EnsemblGeneIds (GRCh37): ENSG00000168944
OMIM: 613446, Gene2Phenotype
CEP120 is in 10 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- KidGen_CilioNephronop v38.1.0
- Phenotypes
-
- Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 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
28 Jan 2020, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: CEP120 was added gene: CEP120 was added to Kidneyome_SuperPanel_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Amber Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP120 were set to Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300