Bardet-Biedl syndrome 7

Summary

Bardet-Biedl syndrome 7 (MONDO:0014435) is a disease caused by BBS7 (GenCC Definitive), with 1 cohort gene.

At a glance

• Causal gene: BBS7 (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 256

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Bardet-Biedl syndrome 7
Mondo ID	MONDO:0014435
MeSH	C565916
OMIM	615984
DOID	DOID:0110129
UMLS	C1859565
MedGen	347180
GARD	0010206
Is cancer (heuristic)	no

Also known as: Bardet-Biedl syndrome 7 · Bardet-Biedl syndrome caused by mutation in BBS7 · Bardet-Biedl syndrome type 7 · BBS7 · BBS7 Bardet-Biedl syndrome

Data availability: 256 ClinVar variants · 4 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › syndromic disease › Bardet-Biedl syndrome › Bardet-Biedl syndrome 7

Related subtypes (21): Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 3, Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 8, Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 13, Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 15, Bardet-Biedl syndrome 16, Bardet-Biedl syndrome 17, Bardet-Biedl syndrome 18, Bardet-Biedl syndrome 19, Bardet-Biedl syndrome 22, Bardet-Biedl syndrome 20, bardet-biedl syndrome 21

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

256 retrieved; paginated sample, class counts are floors:

122 uncertain significance, 38 likely pathogenic, 27 pathogenic/likely pathogenic, 26 conflicting classifications of pathogenicity, 20 pathogenic, 13 likely benign, 8 benign, 2 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1069616	NM_176824.3(BBS7):c.1083_1084del (p.Asn362fs)	BBS7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1076876	NM_176824.3(BBS7):c.1093_1094del (p.Gln365fs)	BBS7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1362137	NM_176824.3(BBS7):c.1458C>G (p.Tyr486Ter)	BBS7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1507819	NM_176824.3(BBS7):c.849+1G>C	BBS7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
162088	NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs)	BBS7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1687580	NM_176824.3(BBS7):c.526C>T (p.Gln176Ter)	BBS7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2058921	NM_176824.3(BBS7):c.1306-1_1308del	BBS7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
216138	NM_176824.3(BBS7):c.389_390del (p.Asn130fs)	BBS7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
236452	NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter)	BBS7	Pathogenic	criteria provided, multiple submitters, no conflicts
2418923	NM_176824.3(BBS7):c.719G>T (p.Gly240Val)	BBS7	Pathogenic	criteria provided, single submitter
2680060	NM_176824.3(BBS7):c.725dup (p.Leu242fs)	BBS7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2680062	NM_176824.3(BBS7):c.149dup (p.Lys51fs)	BBS7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2680064	NM_176824.3(BBS7):c.1677-2A>G	BBS7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2680065	NM_176824.3(BBS7):c.1443T>A (p.Cys481Ter)	BBS7	Pathogenic	criteria provided, single submitter
2680067	NM_176824.3(BBS7):c.288_289del (p.Gly97fs)	BBS7	Pathogenic	criteria provided, single submitter
2680075	NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter)	BBS7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2680076	NM_176824.3(BBS7):c.72del (p.Pro25fs)	BBS7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2680078	NM_176824.3(BBS7):c.613_614del (p.Glu205fs)	BBS7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2680083	NM_176824.3(BBS7):c.1579dup (p.Cys527fs)	BBS7	Pathogenic	criteria provided, multiple submitters, no conflicts
2721327	NM_176824.3(BBS7):c.690G>A (p.Trp230Ter)	BBS7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2784090	NM_176824.3(BBS7):c.133dup (p.Met45fs)	BBS7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
281626	NM_176824.3(BBS7):c.712_715del (p.Arg238fs)	BBS7	Pathogenic	criteria provided, multiple submitters, no conflicts
285609	NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer)	BBS7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
291142	NM_176824.3(BBS7):c.649dup (p.Ala217fs)	BBS7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2920657	NM_176824.3(BBS7):c.529-2A>G	BBS7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3015	NM_176824.3(BBS7):c.968A>G (p.His323Arg)	BBS7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3016	NM_176824.3(BBS7):c.632C>T (p.Thr211Ile)	BBS7	Pathogenic	criteria provided, multiple submitters, no conflicts
3017	NM_176824.3(BBS7):c.709_712del (p.Lys237fs)	BBS7	Pathogenic	no assertion criteria provided
30680	NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del)	BBS7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3068536	NM_176824.3(BBS7):c.1611del (p.Gly538fs)	BBS7	Pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
BBS7	Definitive	Autosomal recessive	Bardet-Biedl syndrome 7	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
BBS7	Orphanet:110	Bardet-Biedl syndrome

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
BBS7	HGNC:18758	ENSG00000138686	Q8IWZ6	BBSome complex member BBS7	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
BBS7	BBSome complex member BBS7	The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Scaffold/PPI	1	17.3×	0.058

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
BBS7	Scaffold/PPI	no		WD40/YVTN_repeat-like_dom_sf, Bardet-Biedl_syndrome_7_prot, WD40_repeat_dom_sf

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
calcaneal tendon	1
endothelial cell	1
lateral nuclear group of thalamus	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
BBS7	262	ubiquitous	marker	endothelial cell, calcaneal tendon, lateral nuclear group of thalamus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
BBS7	1,622

Structural data

PDB: 0 · AlphaFold-only: 1 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
BBS7	Q8IWZ6	92.99

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 4. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
BBSome-mediated cargo-targeting to cilium	1	496.5×	0.008	BBS7
Cargo trafficking to the periciliary membrane	1	248.3×	0.008	BBS7
Cilium Assembly	1	108.8×	0.012	BBS7
Organelle biogenesis and maintenance	1	66.0×	0.015	BBS7

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
pigment granule aggregation in cell center	1	8426.0×	0.001	BBS7
primary palate development	1	8426.0×	0.001	BBS7
digestive tract morphogenesis	1	991.3×	0.006	BBS7
melanosome transport	1	766.0×	0.006	BBS7
limb development	1	411.0×	0.008	BBS7
eye development	1	351.1×	0.008	BBS7
non-motile cilium assembly	1	290.6×	0.008	BBS7
heart looping	1	267.5×	0.008	BBS7
determination of left/right symmetry	1	255.3×	0.008	BBS7
positive regulation of proteasomal ubiquitin-dependent protein catabolic process	1	210.7×	0.008	BBS7
smoothened signaling pathway	1	181.2×	0.008	BBS7
fat cell differentiation	1	181.2×	0.008	BBS7
intracellular protein localization	1	104.7×	0.013	BBS7
brain development	1	79.5×	0.015	BBS7
visual perception	1	79.5×	0.015	BBS7
cilium assembly	1	73.6×	0.015	BBS7
protein transport	1	43.9×	0.024	BBS7
regulation of transcription by RNA polymerase II	1	11.7×	0.086	BBS7

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
BBS7	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	BBS7

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
BBS7	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.