Severe early-onset obesity

Gene: ALMS1

Green List (high evidence)

ALMS1 (ALMS1, centrosome and basal body associated protein)
EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 21 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Clinical features include: retinitis pigmentosa, deafness, obesity, and diabetes mellitus.
Created: 11 Jan 2020, 6:04 a.m. | Last Modified: 31 Oct 2021, 9:41 p.m.
Panel Version: 0.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alstrom syndrome, MIM# 203800

History Filter Activity

31 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alms1 has been classified as Green List (High Evidence).

31 Oct 2021, Gel status: 3

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 Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALMS1 were set to Alstrom syndrome, OMIM:203800