Limb disorders
Gene: ALMS1Comment 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 literatureCreated: 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
Tag curated_removed tag was added to gene: ALMS1.
Eleanor Williams: ALMS1 is associated with Alstr
Gene: alms1 has been removed from the panel.
Source Expert Review Removed was added to ALMS1. Rating Changed from Red List (low evidence) to No List (delete)
Gene: alms1 has been classified as Red List (Low Evidence).
Publications for gene: ALMS1 were set to
Gene: alms1 has been classified as Red List (Low Evidence).
ALMS1 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
ALMS1 was created by Ellen McDonagh