Joubert syndromeGene: 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
Relevant phenotype and mode of inheritance was sourced from OMIM.
Created: 8 Jan 2016, 11:36 a.m.
Phenotypes for gene AHI1 were set to Joubert syndrome-3
Model of inheritance for gene AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
AHI1 was added to Joubert syndromepanel. Sources: Other
AHI1 was created by ellenmcdonagh
AHI1 was added to Joubert syndromepanel. Sources: Eligibility statement prior genetic testing