Limb disorders

Gene: BBIP1

Green List (high evidence)

Comment on list classification: 3 unrelated patients reported in literature with BBS and biallelic BBIP1 variants had polydactyly / brachydactyly. Hence, this gene can be updated to Green on Limb disorders at the next update.

Created: 27 Mar 2026, 3:07 p.m. | Last Modified: 7 May 2026, 12:43 p.m.

Panel Version: 8.1

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). Phenotype: Obesity, ID, polydactyly (s/p removal), end stage RP.

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, 3:02 p.m. | Last Modified: 7 May 2026, 12:42 p.m.

Panel Version: 8.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 18, OMIM:615995

Publications

• 24026985
• 32055034
• 37239474

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

• 24026985