Paediatric or syndromic cardiomyopathy - previous panel
Gene: ALMS1EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 24 panels
1 review
Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)
Sources: LiteratureCreated: 14 Feb 2019, 1:19 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
-
- PMID: 2030
- 1444
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Bardet Biedl syndrome
- Monogenic diabetes
- Insulin resistance (including lipodystrophy)
- Limb disorders
- Dilated Cardiomyopathy and conduction defects
- Structural eye disease
- Alstrom syndrome
- Severe early-onset obesity
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Proteinuric renal disease
- Lipodystrophy - childhood onset
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Rare multisystem ciliopathy disorders
History Filter Activity
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: alms1 has been classified as Red List (Low Evidence).
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 Paediatric or syndromic cardiomyopathy. 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