Severe early-onset obesity
Gene: ALMS1

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

Created: 11 Jan 2020, 6:04 a.m.
Last Modified: 31 Oct 2021, 9:41 p.m.
Panel version: Imported from Bardet Biedl syndrome panel version 0.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp
Victorian Clinical Genetics Services

Phenotypes

Alstrom syndrome, OMIM:203800

OMIM

606844

Clinvar variants

Variants in ALMS1

Penetrance

None

Panels with this gene

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

Severe early-onset obesity Gene: ALMS1