Bardet Biedl syndrome

Gene: ALMS1

No list

ALMS1 (ALMS1, centrosome and basal body associated protein)
EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 27 panels

4 reviews

Anna de Burca (Genomics England Curator)

Comment on list classification: Associated with Alstrom syndrome rather than Bardet-Biedl syndrome.
Created: 19 Feb 2019, 11:42 a.m.

Beth Hoskins (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
203800

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Is rated green on the Version 1 Bardet-Biedl Syndrome panel and is a confirmed DD gene for Alstrom syndrome.
Created: 4 Aug 2016, 3:36 p.m.

Caroline Wright (Genomics England Curator)

Comment on list classification: Alstrom syndrome
Created: 17 Dec 2015, 2:37 p.m.

History Filter Activity

19 Feb 2019, Gel status: 0

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

Gene: alms1 has been removed from the panel.

15 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: ALMS1 was added gene: ALMS1 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALMS1 were set to Alstrom syndrome, 203800; Bardet-Biedl Syndrome