Neurological ciliopathiesGene: AHI1
Positives within our diagnostic patient cohort. Evidence in literature.
Created: 15 Mar 2016, 10:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted from red to green due to green expert review and >3 unrelated cases in OMIM and different variants reported for Joubert syndrome-3.
Created: 27 Aug 2016, 9:49 a.m.
Relevant phenotype and mode of inheritance was sourced from OMIM.
Created: 8 Jan 2016, 11:36 a.m.
gene: AHI1 was added gene: AHI1 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AHI1 were set to Joubert syndrome 3; Joubert syndrome; Joubert syndrome-3.