Deafness_IsolatedAndComplex
Gene: ALMS1
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
Gene: alms1 has been classified as Green List (High Evidence).
Phenotypes for gene: ALMS1 were changed from to Alstrom syndrome, MIM# 203800
Publications for gene: ALMS1 were set to
Mode of inheritance for gene: ALMS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: ALMS1 was added gene: ALMS1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: ALMS1 was set to Unknown