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  3. BBIP1
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Limb disorders

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

1 review

Eleanor Williams (Genomics England Curator)

Adding gene as red as it is red on the GMS Bardet Biedl syndrome panel (v1.0).
Only 1 case reported.
Sources: Expert list
Created: 25 Nov 2019, 10:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Bardet-Biedl syndrome 18, 615995

Publications

Created: 25 Nov 2019, 10:20 p.m.

Panel version: 1.106

Details

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

History Filter Activity

25 Nov 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 Limb disorders. Sources: Expert list 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