Ductal plate malformation
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 Removed
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Joubert syndrome 31 (617761)
- Short-rib thoracic dysplasia 13 with or without polydactyly (616300)
- Tags
- OMIM
- 613446
- Clinvar variants
- Variants in CEP120
- Penetrance
- None
- Panels with this gene
-
- Limb disorders
- Ductal plate malformation
- Skeletal ciliopathies
- Skeletal dysplasia
- Fetal anomalies
- 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
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: CEP120.
30 Nov 2018, Gel status: 0
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: New gene name is CPLANE
12 Nov 2018, Gel status: 0
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to CEP120. Rating Changed from Amber List (moderate evidence) to No List (delete)
6 Nov 2018, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: CEP120 was added gene: CEP120 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP120 were set to Joubert syndrome 31 (617761); Short-rib thoracic dysplasia 13 with or without polydactyly (616300)