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 3 panels

1 review

Caroline Wright (Genomics England Curator)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
OMIM
613605
Clinvar variants
Variants in BBIP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Dec 2015, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

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

17 Dec 2015, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

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

14 Oct 2015, Gel status: 0

Added New Source

Beth Hoskins (Great Ormond Street Hospital)

BBIP1 was added to Bardet-Biedl Syndromepanel. Sources: Literature