Deafness_Isolated
Gene: ALMS1EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 21 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Cannot find any evidence of isolated deafness occurring in cases with biallelic pathogenic variants. All reported cases appear to have a complex phenotype including deafness (n=62 results in search).Created: 21 Jan 2021, 5:03 a.m. | Last Modified: 21 Jan 2021, 5:03 a.m.
Panel Version: 1.2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated deafness
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
The hearing loss is a relatively early feature, and the eye findings may not be recognised without sub specialist assessment, especially in infants/young children. Included for completeness, particularly for paediatric patients presenting early in the disease trajectory. Gene is included in GEL Hearing Loss panel for same reason.Created: 6 May 2021, 3:56 a.m. | Last Modified: 6 May 2021, 3:56 a.m.
Panel Version: 1.9
Alstrom syndrome is an autosomal recessive disorder characterized by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity associated with hyperinsulinemia, and type 2 diabetes mellitus. Dilated cardiomyopathy occurs in approximately 70% of patients during infancy or adolescence. Renal failure, pulmonary, hepatic, and urologic dysfunction are often observed, and systemic fibrosis develops with age.
Well established gene-disease association.Created: 25 Sep 2020, 9:55 a.m. | Last Modified: 25 Sep 2020, 9:55 a.m.
Panel Version: 0.401
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alstrom syndrome, MIM# 203800
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Melbourne Genomics Health Alliance Deafness Flagship
- Melbourne Genomics Health Alliance Deafness Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Alstrom syndrome, MIM# 203800
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- None
- Publications
- 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
Removed Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag for review was removed from gene: ALMS1.
Added Tag
Bryony Thompson (Royal Melbourne Hospital)Tag for review tag was added to gene: ALMS1.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: alms1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ALMS1 were changed from Alstrom syndrome to Alstrom syndrome, MIM# 203800
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ALMS1 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ALMS1 was added gene: ALMS1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALMS1 were set to Alstrom syndrome