This Panel is marked as Internal
Joubert syndrome
Gene: CSPP1
CSPP1 (centrosome and spindle pole associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000104218
EnsemblGeneIds (GRCh37): ENSG00000104218
OMIM: 611654, Gene2Phenotype
CSPP1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000104218
EnsemblGeneIds (GRCh37): ENSG00000104218
OMIM: 611654, Gene2Phenotype
CSPP1 is in 15 panels
1 review
Penny Clouston (Oxford)
On current diagnostic panel; no positive families to date. Evidence from the literature.Created: 15 Mar 2016, 2:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome; Meckel-Gruber syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Joubert syndrome, Meckel-Gruber syndrome
- OMIM
- 611654
- Clinvar variants
- Variants in CSPP1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Limb disorders
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Retinal disorders
- Structural eye disease
- Ductal plate malformation
- Renal ciliopathies
- DDG2P
- Rare multisystem ciliopathy disorders
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Skeletal dysplasia
- Thoracic dystrophies
- Skeletal ciliopathies
History Filter Activity
17 Nov 2016, Gel status: 0
Approved Gene
Alice Gardham (Genomics England)This proposed gene was validated and added to this panel
15 Mar 2016, Gel status: 0
Created
Penny Clouston (Oxford)CSPP1 was created by PennyC
15 Mar 2016, Gel status: 0
Added New Source
Penny Clouston (Oxford)CSPP1 was added to Joubert syndromepanel. Sources: Expert Review