Dilated Cardiomyopathy and conduction defects
Gene: ALMS1EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 24 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Added to the panel by expert reviewer.Created: 8 Mar 2019, 4:43 p.m.
Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)
Sources: LiteratureCreated: 14 Feb 2019, 1:18 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy
Publications
- PMID: 2030
- 1444
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Monogenic diabetes
- Unexplained kidney failure in young people
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Retinal disorders
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Structural eye disease
- Alstrom syndrome
- Severe early-onset obesity
- Paediatric or syndromic cardiomyopathy
- Ductal plate malformation
- Proteinuric renal disease
- Lipodystrophy - childhood onset
- Bardet Biedl syndrome
- Renal ciliopathies
- Monogenic hearing loss
- Limb disorders
- Glaucoma (developmental)
- Fetal anomalies
- Rare multisystem ciliopathy disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: alms1 has been classified as Red List (Low Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: ALMS1 were set to PMID: 2030; 1444
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)gene: ALMS1 was added gene: ALMS1 was added to Dilated cardiomyopathy - teen and adult. Sources: Literature Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALMS1 were set to PMID: 2030; 1444 Phenotypes for gene: ALMS1 were set to cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy Penetrance for gene: ALMS1 were set to Complete Review for gene: ALMS1 was set to GREEN