Syndromic Retinopathy
Gene: ALMS1
ALMS1 (ALMS1, centrosome and basal body associated protein)
EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 21 panels
2 reviews
Elena Savva (Victorian Clinical Genetics Services)
Very few pathogenic missense in ClinVar, no convincing reports in papers.
Exons 8, 10 and 16 are mutational hotspots (Marshall, J. D. et al. (2007))Created: 29 Jan 2021, 3:14 a.m. | Last Modified: 29 Jan 2021, 3:14 a.m.
Panel Version: 0.6127
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alstrom syndrome MIM#203800
Publications
- PMID: 17594715
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Overlap of clinical features of BBS: retinitis pigmentosa, deafness, obesity, and diabetes mellitus; but degree of learning difficulties is less pronounced and there is no polydactyly, or hypogonadismCreated: 11 Jan 2020, 6:04 a.m. | Last Modified: 11 Jan 2020, 6:04 a.m.
Panel Version: 0.17
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alstrom syndrome, MIM# 203800
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- RetNet
- Expert Review Green
- Victorian Clinical Genetics Services
- Victorian Clinical Genetics Services
- Victorian Clinical Genetics Services
- Phenotypes
-
- Alstrom syndrome
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- None
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Monogenic Diabetes
- Liver Failure_Paediatric
- Proteinuria
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Bardet Biedl syndrome
- Dyslipidaemia
- Deafness_Isolated
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
- Severe early-onset obesity
History Filter Activity
7 Feb 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ALMS1 was added gene: ALMS1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALMS1 were set to Alstrom syndrome