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Limb disorders

Gene: ALMS1

No list

ALMS1 (ALMS1, centrosome and basal body associated protein)
EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 24 panels

1 review

Eleanor Williams (Genomics England Curator)

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

History Filter Activity

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: ALMS1 is associated with Alstr

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: alms1 has been removed from the panel.

2 Dec 2018, Gel status: 0

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Removed was added to ALMS1. Rating Changed from Red List (low evidence) to No List (delete)

16 Oct 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: alms1 has been classified as Red List (Low Evidence).

16 Oct 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: ALMS1 were set to

26 Sep 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: alms1 has been classified as Red List (Low Evidence).

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ALMS1 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

ALMS1 was created by Ellen McDonagh