Ductal plate malformation
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Joubert syndrome 21 (615636)
- Tags
- OMIM
- 611654
- Clinvar variants
- Variants in CSPP1
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- DDG2P
- Retinal disorders
- 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
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: CSPP1.
30 Nov 2018, Gel status: 0
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: New gene name is CPLANE
12 Nov 2018, Gel status: 0
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to CSPP1. Rating Changed from Red List (low evidence) to No List (delete)
6 Nov 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: CSPP1 was added gene: CSPP1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSPP1 were set to Joubert syndrome 21 (615636)