Ductal plate malformation
Gene: CEP104
CEP104 (centrosomal protein 104)
EnsemblGeneIds (GRCh38): ENSG00000116198
EnsemblGeneIds (GRCh37): ENSG00000116198
OMIM: 616690, Gene2Phenotype
CEP104 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000116198
EnsemblGeneIds (GRCh37): ENSG00000116198
OMIM: 616690, Gene2Phenotype
CEP104 is in 9 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Joubert syndrome 25 (616781)
- Tags
- OMIM
- 616690
- Clinvar variants
- Variants in CEP104
- 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: CEP104.
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 CEP104. Rating Changed from Red List (low evidence) to No List (delete)
6 Nov 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: CEP104 was added gene: CEP104 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP104 were set to Joubert syndrome 25 (616781)