Skeletal dysplasia
Gene: CSPP1EnsemblGeneIds (GRCh38): ENSG00000104218
EnsemblGeneIds (GRCh37): ENSG00000104218
OMIM: 611654, Gene2Phenotype
CSPP1 is in 15 panels
3 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Not listed in SD nosology paper. 4/19 cases reported by Tuz et al 2014 had features consistent with Jeune asphyxiating thoracic dystrophy with short ribs. Another severe case reported by Shaheen et al had Meckel-like phenotype. SD associated with more severe phenotype?; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 21 615636; ORPHA:475 Joubert syndrome; ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy; ORPHA:564 Meckel syndrome
Publications
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CSPP1; Initial rating suggestion: green if SDCreated: 6 Mar 2019, 11:36 a.m.
Arianna Tucci (Genomics England Curator)
Gene added to this panel as green on the Thoracic dystrophies panelCreated: 5 Jun 2017, 1:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 21 615636; ORPHA:475 Joubert syndrome; ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy; ORPHA:564 Meckel syndrome
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Other
- Phenotypes
-
- Joubert syndrome 21 615636
- ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- Joubert syndrome 21 615636
- ORPHA:475 Joubert syndrome
- ORPHA:564 Meckel syndrome
- ORPHA:475 Joubert syndrome
- ORPHA:564 Meckel syndrome
- OMIM
- 611654
- Clinvar variants
- Variants in CSPP1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Limb disorders
- DDG2P
- Intellectual disability
- Retinal disorders
- Ductal plate malformation
- Skeletal ciliopathies
- Neurological ciliopathies
- Structural eye disease
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes, Set publications
Eleanor Williams (Genomics England Curator)Added phenotypes ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy; ORPHA:475 Joubert syndrome; ORPHA:564 Meckel syndrome; Joubert syndrome 21 615636 for gene: CSPP1 Publications for gene CSPP1 were changed from to 24360808; 24360803
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to CSPP1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Arianna Tucci (Genomics England Curator)CSPP1 was added to Unexplained skeletal dysplasiapanel. Sources: Other
Created
Arianna Tucci (Genomics England Curator)CSPP1 was created by arianna