This Panel is marked as Deleted
Polydactyly Victorian Clinical Genetics Services
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
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- None
- Panels with this gene
-
- Ophthalmological ciliopathies
- Monogenic hearing loss
- Severe early-onset obesity
- Retinal disorders
- DDG2P
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Structural eye disease
- Alstrom syndrome
- Monogenic diabetes
- Limb disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Severe insulin resistance and lipodystrophy syndromes
- Intellectual disability
- Fetal anomalies
- Unexplained kidney failure in young people
- Ductal plate malformation
- Bardet Biedl syndrome
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- Glaucoma (developmental)
- Proteinuric renal disease
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)ALMS1 was added to Polydactyly Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)ALMS1 was created by Sarah Leigh