Renal ciliopathies

Gene: ALMS1

Green List (high evidence)

ALMS1 (ALMS1, centrosome and basal body associated protein)
EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 26 panels

5 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

This condition tends to cause a neprhritis/nephropathy rather than cysts so we don't think it is appropriate for this panel.
Created: 3 Jan 2020, 3:31 a.m. | Last Modified: 3 Jan 2020, 3:31 a.m.
Panel Version: 1.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alstrom syndrome

Rebecca Foulger (Genomics England curator)

Addressing Red review from Beth Hoskins, imported from Bardet-Biedl Syndrome panel: ALMS1 is appropriate for this panel: Confirmed DDG2P gene for ALSTROM SYNDROME (a Ciliopathy) and sufficient cases from the literature/OMIM to support inclusion.
Created: 20 Jun 2019, 8:54 p.m. | Last Modified: 20 Jun 2019, 9:08 p.m.
Panel Version: 1.111

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

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: ALMS1 was added gene: ALMS1 was added to Renal ciliopathies. Sources: Expert list,UKGTN,Eligibility statement prior genetic testing,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALMS1 were set to 22773737 Phenotypes for gene: ALMS1 were set to Alstrom Syndrome; Bardet-Biedl Syndrome; 203800; Alstrom syndrome