Neurological ciliopathiesGene: INPP5E
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 1.
Created: 27 Aug 2016, 10:23 a.m.
In current diagnostic panel; one positive family in our disease cohort. Evidence in the literature.
Created: 15 Mar 2016, 2:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
gene: INPP5E was added gene: INPP5E was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP5E were set to 23386033; 26748598 Phenotypes for gene: INPP5E were set to Joubert syndrome; Joubert syndrome 1