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  3. BBIP1
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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 7 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

Created: 15 Mar 2019, 1:24 p.m.

Panel version: 0.11

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.
Created: 19 Dec 2016, 4:53 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.391

Caroline Wright (Genomics England Curator)

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

Panel version: Imported from Rare multisystem ciliopathy disorders panel version Imported from "Bardet-Biedl Syndrome" panel version 0.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • ?Bardet-Biedl syndrome 18, 615995
OMIM
613605
Clinvar variants
Variants in BBIP1
Penetrance
None
Publications
Panels with this gene

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