Limb disorders
Gene: AHI1Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 10:36 p.m.
Comment when marking as ready: Rated as red based on feedback from Genomics England Clinical teamCreated: 16 Oct 2018, 2:57 p.m.
Comment on list classification: Rating as red from feedback from Genomics England clinical team. The presentation of Joubert syndrome is usually broader than isolated polydactyly. It could be useful for the diagnosis of neonates but not for any patients older than this.Created: 2 Oct 2018, 3:46 p.m.
Checking with Genomics England clinical team whether the Jouberts Syndrome is a relevant phenotype for this panel.Created: 26 Sep 2018, 2:17 p.m.
AHI1 is associated with Joubert syndrome 3 in OMIM and has a confirmed association in Gene2Phenotype. Skeletal abnormalities (such as the presence of extra fingers and toes) is a phenotype that is sometimes seen in patients with this syndrome but is not one of the dominant phenotypes. Parisi et al 2007 (PMID: 17377524) report that a survey of Saraiva et al 1992 (PMID: 1341417) found polydactyly in 16% of Joubert syndrome cases.
Variants in this gene have been in identified in multiple families with Joubert syndrome.Created: 26 Sep 2018, 2:16 p.m.
Phenotypes
Joubert syndrome 3 608629
Publications
Tag curated_removed tag was added to gene: AHI1.
Eleanor Williams: AHI1 is associated with Jouber
Gene: ahi1 has been removed from the panel.
Source Expert Review Removed was added to AHI1. Rating Changed from Red List (low evidence) to No List (delete)
Gene: ahi1 has been classified as Red List (Low Evidence).
Phenotypes for gene: AHI1 were changed from Polydactyly to Polydactyly; Joubert syndrome 3 608629
Publications for gene: AHI1 were set to
Gene: ahi1 has been classified as Red List (Low Evidence).
AHI1 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
AHI1 was created by Ellen McDonagh