Renal ciliopathiesGene: CSPP1
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.
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
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