Renal ciliopathies
Gene: ALMS1EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 24 panels
6 reviews
Eleanor Williams (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.Created: 8 Mar 2022, 10:44 a.m. | Last Modified: 8 Mar 2022, 10:44 a.m.
Panel Version: 1.51
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)
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)
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 syndromeCreated: 17 Dec 2015, 2:37 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Orphanet
- Eligibility statement prior genetic testing
- UKGTN
- Expert list
- Phenotypes
-
- Bardet-Biedl Syndrome
- Alstrom syndrome, OMIM:203800
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Alstrom syndrome
- Severe early-onset obesity
- Retinal disorders
- Ductal plate malformation
- Lipodystrophy - childhood onset
- Bardet Biedl syndrome
- Structural eye disease
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Fetal anomalies
- Proteinuric renal disease
- Glaucoma (developmental)
- Rare multisystem ciliopathy disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: ALMS1 were changed from Alstrom Syndrome; Bardet-Biedl Syndrome; 203800; Alstrom syndrome to Bardet-Biedl Syndrome; Alstrom syndrome, OMIM:203800
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: ALMS1.
Added Tag
Eleanor Williams (Genomics England Curator)Tag for-review tag was added to gene: ALMS1.
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