Limb disorders

Gene: AHI1

Comment 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 team

Created: 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

• 17377524
• 1341417