Sudden cardiac death - previous panel
Gene: ALMS1EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 24 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Details
- Sources
-
- London South GLH
- London South GLH
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- None
- Panels with this gene
-
- Ophthalmological ciliopathies
- Severe early-onset obesity
- Limb disorders
- DDG2P
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Alstrom syndrome
- Monogenic diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Severe insulin resistance and lipodystrophy syndromes
- Retinal disorders
- Proteinuric renal disease
- Unexplained kidney failure in young people
- Ductal plate malformation
- Bardet Biedl syndrome
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Glaucoma (developmental)
- Monogenic hearing loss
- Structural eye disease
History Filter Activity
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: ALMS1 was added gene: ALMS1 was added to Sudden cardiac death. Sources: London South GLH Mode of inheritance for gene: ALMS1 was set to