Renal ciliopathies

Gene: BBIP1

Red List (low evidence)

BBIP1 (BBSome interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000214413
EnsemblGeneIds (GRCh37): ENSG00000214413
OMIM: 613605, Gene2Phenotype
BBIP1 is in 8 panels

3 reviews

Zornitza Stark (Australian Genomics)

I don't know

PMID: 24026985 - Single patient with BBS described with bi-allelic variants in this gene.

PMID: 32055034 - An additional patient with classic BBS with a homozygous splice variant confirmed by RT-PCR to result in NMD

One more 'pathogenic' variant in ClinVar but homozygous missense and no evidence provided.
Created: 21 May 2020, 2:09 a.m. | Last Modified: 21 May 2020, 2:09 a.m.
Panel Version: 1.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 18, MIM#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.

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

10 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: BBIP1 was added gene: BBIP1 was added to Renal 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