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  2. Ophthalmological ciliopathies
  3. BBIP1
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Ophthalmological ciliopathies

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

2 reviews

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
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Bardet-Biedl syndrome 18, 615995
OMIM
613605
Clinvar variants
Variants in BBIP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jul 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 Ophthalmological ciliopathies. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,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