Renal ciliopathies

Gene: CSPP1

Green List (high evidence)

CSPP1 (centrosome and spindle pole associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000104218
EnsemblGeneIds (GRCh37): ENSG00000104218
OMIM: 611654, Gene2Phenotype
CSPP1 is in 18 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)

Green List (high evidence)

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

History Filter Activity

10 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: CSPP1 was added gene: CSPP1 was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green,Orphanet 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