Bardet Biedl syndrome

Gene: BBIP1

Green List (high evidence)

Comment on phenotypes: OMIM phenotype updated on 27 Mar 2026.

Created: 27 Mar 2026, 3:01 p.m. | Last Modified: 27 Mar 2026, 3:01 p.m.

Panel Version: 2.13

Comment on list classification: There are now 3 unrelated individuals reported with biallelic BBIP1 variants and Bardet Biedl syndrome diagnosis. Hence, this gene should be promoted to Green at the next update.

Created: 27 Mar 2026, 3 p.m. | Last Modified: 27 Mar 2026, 3 p.m.

Panel Version: 2.10

PMID: 37239474 Nawaz et al., 2023
Homozygous nonsense mutation (c.160A>T; p.Lys54Ter) in the BBIP1 (NM_001195306.1) gene in family B (Pakistani origin). Affected individual with suspected Bardet–Biedl Syndrome presented with polydactyly, retinal degeneration, obesity, hypogonadism, and renal abnormality. No ID/DD seen.

PMID: 32055034 Shamseldin et al., 2020
A patient with classical BBS (18DG0012) harboured a homozygous novel variant NM_001195305.1:c.38–6T > C (aberrant splicing confirmed by RT-PCR with 86% NMD. OMIM entry states "The patient was reported to have classic features of BBS, with obesity, impaired intellectual development, polydactyly, and end-stage retinitis pigmentosa." but I was not able to verify this in the primary publication.

PMID: 24026985 Scheidecker et al., 2014
Italian BBS patient with a homozygous stop mutation (NM_001195306: c.173T>G, p.Leu58*) in the BBIP1 gene. No BBIP1 protein could be detected in fibroblasts from the patient. He presented with retinitis pigmentosa, obesity, kidney failure, cognitive disability, and brachydactyly. He was diagnosed as affected with BBS at 49 years old. He presented an end-stage renal failure 4 years after the diagnosis.

Created: 27 Mar 2026, 2:59 p.m. | Last Modified: 27 Mar 2026, 4 p.m.

Panel Version: 2.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 18, OMIM:615995

Publications

• 24026985
• 32055034
• 37239474

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Bardet-Biedl syndrome 18 615995

Publications

• Scheidecker et al 2014 PMID: 24026985

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.

Comment on list classification: One patient in OMIM

Created: 17 Dec 2015, 2:16 p.m.