Paediatric or syndromic cardiomyopathy
Gene: ALMS1EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 24 panels
2 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Rebecca Whittington (South West GLH)
Presentation with congestive cardiac failure within the first 3 months of life is common patients with Alstrom Syndrome.
Sources: Expert ReviewCreated: 26 Sep 2019, 12:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM 203800
Publications
- PMID: 15689433
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- OMIM 203800
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- Complete
- 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 publications
Ivone Leong (Genomics England Curator)Publications for gene: ALMS1 were set to PMID: 15689433
Added New Source, Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to ALMS1. Source NHS GMS was added to ALMS1. Rating Changed from No List (delete) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Rebecca Whittington (South West GLH)gene: ALMS1 was added gene: ALMS1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALMS1 were set to PMID: 15689433 Phenotypes for gene: ALMS1 were set to OMIM 203800 Penetrance for gene: ALMS1 were set to Complete Review for gene: ALMS1 was set to GREEN