Rare multisystem ciliopathy disorders
Gene: CSPP1EnsemblGeneIds (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
-
- Other
- Orphanet
- Expert Review Green
- Expert list
- Phenotypes
-
- Joubert syndrome
- Meckel-Gruber syndrome
- Joubert syndrome 21
- Meckel syndrome
- OMIM
- 611654
- Clinvar variants
- Variants in CSPP1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Skeletal ciliopathies
- Skeletal dysplasia
- Structural eye disease
- Intellectual disability
- Ductal plate malformation
- Neurological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- DDG2P
- Retinal disorders
- Limb disorders
- Thoracic dystrophies
- Rare multisystem ciliopathy disorders
- Fetal anomalies
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Added New Source
Ellen McDonagh (Genomics England Curator)CSPP1 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Added New Source
Ellen McDonagh (Genomics England Curator)CSPP1 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CSPP1 were set to Joubert syndrome; Meckel-Gruber syndrome;Joubert syndrome 21
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CSPP1 were set to 24360808; 24360807; 24360803
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)CSPP1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)CSPP1 was created by ellenmcdonagh