This Panel is marked as Internal
Test MOI validation panel - do not edit
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
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Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- OMIM test - MOI is Both mono and bialllelic and OMIM has only AR
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Monogenic hearing loss
- Bardet Biedl syndrome
- Monogenic diabetes
- Insulin resistance (including lipodystrophy)
- Limb disorders
- Dilated Cardiomyopathy and conduction defects
- Structural eye disease
- Alstrom syndrome
- Childhood onset dystonia, chorea or related movement disorder
- 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
20 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: alms1 has been classified as Green List (High Evidence).
20 Oct 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: ALMS1 was added gene: ALMS1 was added to TEST mode of inheritance validation panel. Sources: Literature Mode of inheritance for gene: ALMS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ALMS1 were set to OMIM test - MOI is Both mono and bialllelic and OMIM has only AR