Limb disorders

Gene: ALMS1

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, 10:37 p.m.

Comment when marking as ready: Rated red after review of literature

Created: 16 Oct 2018, 3:04 p.m.

Comment on list classification: Rating red as only one report of a variant in this gene being associated with a polydactyly phenotype.

Created: 26 Sep 2018, 9:09 p.m.

ALMS1 is associated with Alstrom syndrome in OMIM and also has a confirmed association in Gene2Phenotype. In OMIM they note that patients with this syndrome show NO polydactyly.

A literature search of PubMed found only one publication reporting a family (BBS-A1) with polydactyly and a variant in ALMS1 (Sathya Priya et al 2015, PMID: 24400638). The patient was diagnosed with Bardet-Biedl syndrome. The same publication reports another family (BBS-C1) again with a variant found in ALMS1 (p.R3629X) and Bardet-Biedl syndrome but no polydactyly was observed.

Created: 26 Sep 2018, 9:07 p.m.

Publications

• 24400638