Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

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

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association.

Childhood onset, multi-system disorder. Dilated cardiomyopathy and renal failure are features.

No specific treatment available.

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 hypogonadism.

Congenital anomalies are a rare feature.
Created: 12 Jul 2024, 6:46 a.m. | Last Modified: 12 Jul 2024, 6:46 a.m.
Panel Version: 1.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alstrom syndrome, MIM# 203800

History Filter Activity

25 Jul 2024, 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).

25 Jul 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALMS1 were changed from Alstrom syndrome, 203800 (3) to Alstrom syndrome, MIM# 203800

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Alstrom syndrome, 203800 (3) for gene: ALMS1

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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, 203800 (3)