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  2. Ductal plate malformation
  3. CEP120
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Ductal plate malformation

Gene: CEP120

No list
CEP120 (centrosomal protein 120)
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
curated_removed
OMIM
613446
Clinvar variants
Variants in CEP120
Penetrance
None
Panels with this gene

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)