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Fetal anomalies

Gene: BBIP1

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Red in BBS panel review in 2018, amber in renal ciliopathies but review in 2020 (2 cases). Green in Aus panels quoting now 3 cases. 24026985;32055034;37239474 3 cases all hom for different variants (2 nonsense, 1 canonical splicing) with classic BBS featres included bilateral enlarged kidneys, polydactyly etc. Functional evidence in one showing NMD, Zebrafish studies also supportinve. Enough for green now.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 18, MIM #615995

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

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

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Bardet-Biedl syndrome 18, MIM #615995 for gene: BBIP1

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: BBIP1 was added gene: BBIP1 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal