Ductal plate malformation

Gene: CEP83

No list

CEP83 (centrosomal protein 83)
EnsemblGeneIds (GRCh38): ENSG00000173588
EnsemblGeneIds (GRCh37): ENSG00000173588
OMIM: 615847, Gene2Phenotype
CEP83 is in 12 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephronophthisis 18 (615862)
Tags
curated_removed
OMIM
615847
Clinvar variants
Variants in CEP83
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: CEP83.

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 CEP83. Rating Changed from Amber List (moderate evidence) to No List (delete)

6 Nov 2018, Gel status: 2

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Radboud University Medical Center, Nijmegen was added to CEP83. Source UKGTN was added to CEP83. Rating Changed from No List (delete) to Amber List (moderate evidence)

6 Nov 2018, Gel status: 0

Clear Sources

Ivone Leong (Genomics England Curator)

All sources for gene: CEP83 were removed

6 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: CEP83 was added gene: CEP83 was added to Ductal plate malformation (DPM). Sources: UKTGN,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP83 were set to Nephronophthisis 18 (615862)