Details of Disease

General Information of Disease (ID: DISUS6C6)

• Disease Name: CEP290-related ciliopathy
• Synonyms: Bardet-Biedl syndrome 14; amaurosis congenita of Leber, type 10; SLSN6; Joubert syndrome 5; Leber congenital amaurosis 10; Bardet-Biedl syndrome type 14; CEP290 Senior-Loken syndrome; CEP290 Joubert syndrome; CEP290 Leber congenital amaurosis; Meckel syndrome caused by mutation in CEP290; Meckel syndrome 4; MKS4; Meckel syndrome, type 4; Joubert syndrome type 5; BBS14; Senior-Loken syndrome 6; CEP290 Meckel syndrome; Meckel-like Cerebrorenodigital syndrome; Senior-Loken syndrome type 6; Meckel-Gruber syndrome, type 4; Joubert syndrome caused by mutation in CEP290; Leber congenital amaurosis caused by mutation in CEP290; JBTS5; SENIOR-Loken syndrome 6; Senior-Loken syndrome caused by mutation in CEP290; Leber congenital amaurosis type 10; LCA10; CEP290 ciliopathy
• Definition: A ciliopathy caused by biallelic variants in the CEP290 gene.
• Disease Hierarchy:
  DIS10G4I: Ciliopathy
  DISUS6C6: CEP290-related ciliopathy

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CEP290	TT3XBOV	Definitive	Autosomal recessive	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CEP290	OTVN52VH	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.