Joubert syndrome

Gene: CEP290

Red List (low evidence)

CEP290 (centrosomal protein 290)
EnsemblGeneIds (GRCh38): ENSG00000198707
EnsemblGeneIds (GRCh37): ENSG00000198707
OMIM: 610142, Gene2Phenotype
CEP290 is in 16 panels

2 reviews

Penny Clouston (Oxford)

Green List (high evidence)

Positives within our diagnostic patient cohort. Evidence in literature.
15 Mar 2016, 10:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Relevant phenotype and mode of inheritance was sourced from OMIM.
8 Jan 2016, 11:36 a.m.

History Filter Activity

8 Jan 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene CEP290 were set to Joubert syndrome 5

8 Jan 2016, Gel status: 0

Upload gene information

Ellen McDonagh (Genomics England Curator)

CEP290 was added to Joubert syndromepanel. Sources: Other

8 Jan 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene CEP290 were set to Joubert syndrome 5

8 Jan 2016, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CEP290 was set to BIALLELIC, autosomal or pseudoautosomal

7 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CEP290 was created by ellenmcdonagh

7 Jan 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CEP290 was added to Joubert syndromepanel. Sources: Eligibility statement prior genetic testing