Rare multisystem ciliopathy disorders
Gene: BBIP1

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.

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

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 "Bardet-Biedl Syndrome" panel version 0.6

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
UKGTN
Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

?Bardet-Biedl syndrome 18, 615995

OMIM

613605

Clinvar variants

Variants in BBIP1

Penetrance

Complete

Publications

24026985

Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

18 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

19 Dec 2016, Gel status: 1

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for BBIP1 were set to ?Bardet-Biedl syndrome 18, 615995

19 Dec 2016, Gel status: 1

Set publications

Richard Scott (Genomics England Curator)

Publications for BBIP1 were set to 24026985

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

25 Nov 2016, Gel status: 2