Joubert syndrome

Gene: CSPP1

Red List (low evidence)

CSPP1 (centrosome and spindle pole associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000104218
EnsemblGeneIds (GRCh37): ENSG00000104218
OMIM: 611654, Gene2Phenotype
CSPP1 is in 17 panels

1 review

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

Joubert syndrome; Meckel-Gruber syndrome


Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

17 Nov 2016, Gel status: 0

Approved Gene

Alice Gardham (Genomics England)

This proposed gene was validated and added to this panel

15 Mar 2016, Gel status: 0


Penny Clouston (Oxford)

CSPP1 was created by PennyC

15 Mar 2016, Gel status: 0

Added New Source

Penny Clouston (Oxford)

CSPP1 was added to Joubert syndromepanel. Sources: Expert Review