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 25 panels

6 reviews

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

After consultation with the Genomics England rare disease clinical team it has been agreed that the phenotype is not typical of renal ciliopathy and so it should be downgraded to RED at the next major review. It is green on the Ophthalmological ciliopathies panel and so will still be included in the Rare multisystem ciliopathy Super panel.
Created: 7 Jul 2020, 10:22 a.m. | Last Modified: 7 Jul 2020, 10:22 a.m.
Panel Version: 1.23

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

7 Jul 2020, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: ALMS1.

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