Glaucoma (developmental)
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
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alstrom syndrome; 203800
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alstrom syndrome 203800
Details
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- Complete
- Panels with this gene
-
- Ophthalmological ciliopathies
- Renal ciliopathies
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Proteinuric renal disease
- Fetal anomalies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Unexplained kidney failure in young people
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Severe insulin resistance and lipodystrophy syndromes
- Severe early-onset obesity
- Monogenic hearing loss
- Limb disorders
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Bardet Biedl syndrome
- Alstrom syndrome
- Glaucoma (developmental)
- DDG2P
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)ALMS1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory