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Prepair 1000+

Gene: BBS1

Green List (high evidence)
BBS1 (Bardet-Biedl syndrome 1)
EnsemblGeneIds (GRCh38): ENSG00000174483
EnsemblGeneIds (GRCh37): ENSG00000174483
OMIM: 209901, Gene2Phenotype
BBS1 is in 16 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Severe, multi-system ciliopathy, ID is part of the phenotype.
Created: 25 Jul 2024, 1:49 a.m. | Last Modified: 25 Jul 2024, 1:49 a.m.
Panel Version: 1.29

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 1, MIM# 209900

Created: 25 Jul 2024, 1:49 a.m.
Last Modified: 25 Jul 2024, 1:49 a.m.
Panel version: 1.29

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association.

Congenital onset, multisystem disorder. Renal abnormalities and polydactyly.

Some suggestion that heterozygotes may have an increased frequency of obesity, hypertension, diabetes mellitus, and renal disease.

No specific treatment available.
Created: 12 Jul 2024, 7:07 a.m. | Last Modified: 12 Jul 2024, 7:07 a.m.
Panel Version: 1.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 1, MIM# 209900

Publications

Created: 12 Jul 2024, 7:07 a.m.
Last Modified: 12 Jul 2024, 7:07 a.m.
Panel version: 1.7

History Filter Activity

25 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bbs1 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: BBS1 were changed from Bardet-Biedl syndrome 1, 209900 (3) to Bardet-Biedl syndrome 1, MIM# 209900

25 Jul 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BBS1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Bardet-Biedl syndrome 1, 209900 (3) for gene: BBS1

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: BBS1 was added gene: BBS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1, 209900 (3)