Neurological ciliopathies
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
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review and >3 unrelated cases in OMIM and different variants reported for Joubert syndrome 21.Created: 27 Aug 2016, 10:20 a.m.
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
-
- Expert Review Green
- Phenotypes
-
- Joubert syndrome
- Meckel syndrome
- Joubert syndrome 21
- Meckel-Gruber syndrome
- OMIM
- 611654
- Clinvar variants
- Variants in CSPP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Retinal disorders
- DDG2P
- Ductal plate malformation
- Skeletal ciliopathies
- Neurological ciliopathies
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Thoracic dystrophies
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
25 Jul 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CSPP1 was added gene: CSPP1 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSPP1 were set to 24360807; 24360803; 24360808 Phenotypes for gene: CSPP1 were set to Joubert syndrome; Meckel syndrome; Joubert syndrome 21; Meckel-Gruber syndrome