Rare multisystem ciliopathy disorders
Gene: ALMS1EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 24 panels
4 reviews
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
-
- Eligibility statement prior genetic testing
- Illumina TruGenome Clinical Sequencing Services
- Orphanet
- UKGTN
- Expert Review Green
- Expert list
- Phenotypes
-
- Alstrom syndrome
- Bardet-Biedl Syndrome
- 203800
- Alstrom Syndrome
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Ophthalmological ciliopathies
- Insulin resistance (including lipodystrophy)
- Intellectual disability
- Dilated Cardiomyopathy and conduction defects
- Alstrom syndrome
- Monogenic diabetes
- Structural eye disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Renal ciliopathies
- Monogenic hearing loss
- Fetal anomalies
- Severe early-onset obesity
- Childhood onset dystonia, chorea or related movement disorder
- Bardet Biedl syndrome
- Unexplained kidney failure in young people
- Ductal plate malformation
- Proteinuric renal disease
- Lipodystrophy - childhood onset
- Limb disorders
- DDG2P
- Retinal disorders
- Glaucoma (developmental)
- Rare multisystem ciliopathy disorders
History Filter Activity
Upload gene information
Ellen McDonagh (Genomics England Curator)ALMS1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Eligibility statement prior genetic testing
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Upload gene information
Ellen McDonagh (Genomics England Curator)ALMS1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)ALMS1 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
Added New Source
Ellen McDonagh (Genomics England Curator)ALMS1 was added to Rare multisystem ciliopathy disorderspanel. Source: UKGTN
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ALMS1 were set to Alstrom syndrome; Bardet-Biedl Syndrome; 203800
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ALMS1 were set to 22773737
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)ALMS1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ALMS1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list