Ciliopathies

Gene: BBS2

Green List (high evidence)

BBS2 (Bardet-Biedl syndrome 2)
EnsemblGeneIds (GRCh38): ENSG00000125124
EnsemblGeneIds (GRCh37): ENSG00000125124
OMIM: 606151, Gene2Phenotype
BBS2 is in 16 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Limited number of families also reported with isolated RP.
Created: 9 Oct 2020, 11:24 a.m. | Last Modified: 25 Jun 2021, 7:55 a.m.
Panel Version: 0.306

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 2, MIM# 615981; Retinitis pigmentosa 74, MIM# 616562

Publications

History Filter Activity

25 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bbs2 has been classified as Green List (High Evidence).

25 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BBS2 were changed from to Bardet-Biedl syndrome 2, MIM# 615981; Retinitis pigmentosa 74, MIM# 616562

25 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BBS2 were set to

25 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BBS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BBS2 was added gene: BBS2 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BBS2 was set to Unknown