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
- Monogenic hearing loss
- Severe early-onset obesity
- Intellectual disability
- Insulin resistance (including lipodystrophy)
- Structural eye disease
- Dilated Cardiomyopathy and conduction defects
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Alstrom syndrome
- Monogenic diabetes
- Fetal anomalies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Severe insulin resistance and lipodystrophy syndromes
- Limb disorders
- Proteinuric renal disease
- Paediatric or syndromic cardiomyopathy
- Unexplained kidney failure in young people
- Ductal plate malformation
- Bardet Biedl syndrome
- Renal ciliopathies
- Retinal disorders
- Rare multisystem ciliopathy disorders
- Glaucoma (developmental)
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