This Panel is marked as Internal
Sudden cardiac death - previous panel
Gene: ALMS1
ALMS1 (ALMS1, centrosome and basal body associated protein)
EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 24 panels
EnsemblGeneIds (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
- Childhood onset dystonia, chorea or related movement disorder
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Alstrom syndrome
- Retinal disorders
- Structural eye disease
- Severe early-onset obesity
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Bardet Biedl syndrome
- Unexplained kidney failure in young people
- Monogenic diabetes
- Ductal plate malformation
- Proteinuric renal disease
- Lipodystrophy - childhood onset
- DDG2P
- Glaucoma (developmental)
- Limb disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
History Filter Activity
9 Sep 2019, Gel status: 1
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