Rare multisystem ciliopathy disorders
Gene: 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.
AHI1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Eligibility statement prior genetic testing
Promoted to version 1 by Alice Gardham on 26th January 2017
AHI1 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
This gene has been classified as Green List (High Evidence).
Phenotypes for AHI1 were set to Joubert syndrome;Joubert syndrome-3.
This gene has been classified as Green List (High Evidence).
Phenotypes for AHI1 were set to Joubert syndrome
AHI1 was created by ellenmcdonagh
AHI1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list