Bardet Biedl syndrome

Gene: BBIP1

Red List (low evidence)

BBIP1 (BBSome interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000214413
EnsemblGeneIds (GRCh37): ENSG00000214413
OMIM: 613605, Gene2Phenotype
BBIP1 is in 10 panels

3 reviews

Tom Cullup (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Bardet-Biedl syndrome 18 615995

Publications

Richard Scott (Genomics England Curator)

Comment on list classification: Only one patient reported to date
Created: 19 Dec 2016, 4:53 p.m.
Comment on list classification: Only one patient reported to date
Created: 19 Dec 2016, 4:53 p.m.

Caroline Wright (Genomics England Curator)

Comment on list classification: One patient in OMIM
Created: 17 Dec 2015, 2:16 p.m.

History Filter Activity

15 Mar 2019, Gel status: 1

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to BBIP1. Added phenotypes ?Bardet-Biedl syndrome 18, 615995 for gene: BBIP1

19 Feb 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: BBIP1 was added gene: BBIP1 was added to Bardet Biedl syndrome. Sources: Expert Review Red Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBIP1 were set to 24026985 Phenotypes for gene: BBIP1 were set to ?Bardet-Biedl syndrome 18, 615995