Bardet Biedl syndrome

Gene: BBS7

Green List (high evidence)

BBS7 (Bardet-Biedl syndrome 7)
EnsemblGeneIds (GRCh38): ENSG00000138686
EnsemblGeneIds (GRCh37): ENSG00000138686
OMIM: 607590, Gene2Phenotype
BBS7 is in 22 panels

3 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 7 615984

Publications

Beth Hoskins (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene is green on the Bardet-Biedl Syndrome panel (version 1.53).
Created: 4 Aug 2016, 3:50 p.m.

History Filter Activity

15 Mar 2019, Gel status: 4

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: BBS7 were changed from Bardet-Biedl syndrome 7, 615984; Bardet Biedl syndrome 7, 615984 to Bardet-Biedl syndrome 7, 615984

15 Mar 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to BBS7. Added phenotypes Bardet-Biedl syndrome 7, 615984 for gene: BBS7 Publications for gene BBS7 were changed from to 12567324

15 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: BBS7 was added gene: BBS7 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS7 were set to Bardet Biedl syndrome 7, 615984