Bardet-Biedl syndrome 15

Summary

Bardet-Biedl syndrome 15 (MONDO:0014443) is a disease caused by WDPCP (GenCC Definitive), with 1 cohort gene.

At a glance

• Causal gene: WDPCP (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 218

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Bardet-Biedl syndrome 15
Mondo ID	MONDO:0014443
OMIM	615992
DOID	DOID:0110137
UMLS	C3150127
MedGen	461477
GARD	0016039
Is cancer (heuristic)	no

Also known as: Bardet-Biedl syndrome 15 · Bardet-Biedl syndrome caused by mutation in WDPCP · Bardet-Biedl syndrome type 15 · BBS15 · WDPCP Bardet-Biedl syndrome

Data availability: 218 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 15

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 7, 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 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

218 retrieved; paginated sample, class counts are floors:

131 uncertain significance, 37 conflicting classifications of pathogenicity, 23 likely benign, 9 likely pathogenic, 7 benign, 5 pathogenic, 3 pathogenic/likely pathogenic, 3 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1076112	NM_015910.7(WDPCP):c.547A>T (p.Lys183Ter)	WDPCP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1179146	NM_015910.7(WDPCP):c.1809_1812+6del	WDPCP	Pathogenic	criteria provided, single submitter
1451557	NM_015910.7(WDPCP):c.755G>A (p.Trp252Ter)	WDPCP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
162668	NM_015910.7(WDPCP):c.552_553del (p.Cys185fs)	WDPCP	Pathogenic	criteria provided, multiple submitters, no conflicts
2882889	NM_015910.7(WDPCP):c.512_515del (p.Asp171fs)	WDPCP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3234011	NM_015910.7(WDPCP):c.720C>A (p.Cys240Ter)	WDPCP	Pathogenic	no assertion criteria provided
45	NM_015910.7(WDPCP):c.76-1G>T	WDPCP	Pathogenic	no assertion criteria provided
917967	NM_015910.7(WDPCP):c.2078+1G>T	WDPCP	Pathogenic	no assertion criteria provided
1327998	NM_015910.7(WDPCP):c.541C>T (p.Gln181Ter)	WDPCP	Likely pathogenic	criteria provided, single submitter
3586811	NM_015910.7(WDPCP):c.1600C>T (p.Gln534Ter)	WDPCP	Likely pathogenic	criteria provided, single submitter
3586817	NM_015910.7(WDPCP):c.1436-1G>A	WDPCP	Likely pathogenic	criteria provided, single submitter
3586825	NM_015910.7(WDPCP):c.917dup (p.Ser307fs)	WDPCP	Likely pathogenic	criteria provided, single submitter
3586844	NM_015910.7(WDPCP):c.3G>A (p.Met1Ile)	WDPCP	Likely pathogenic	criteria provided, single submitter
3767117	NM_015910.7(WDPCP):c.256C>T (p.Arg86Ter)	WDPCP	Likely pathogenic	criteria provided, single submitter
631865	NM_015910.7(WDPCP):c.209-1G>A	WDPCP	Likely pathogenic	criteria provided, multiple submitters, no conflicts
969340	NM_015910.7(WDPCP):c.633+2T>C	WDPCP	Likely pathogenic	criteria provided, multiple submitters, no conflicts
974876	NM_015910.7(WDPCP):c.253+2T>C	WDPCP	Likely pathogenic	criteria provided, single submitter
1005664	NM_015910.7(WDPCP):c.691A>G (p.Ile231Val)	WDPCP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1058192	NM_015910.7(WDPCP):c.771T>A (p.Ser257=)	WDPCP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1339333	NM_015910.7(WDPCP):c.1492T>G (p.Cys498Gly)	WDPCP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1446584	NM_015910.7(WDPCP):c.1435+18A>G	WDPCP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
162669	NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn)	WDPCP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
188367	NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile)	WDPCP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
193387	NM_015910.7(WDPCP):c.13T>C (p.Phe5Leu)	WDPCP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2052283	NM_015910.7(WDPCP):c.500-17_500-13del	WDPCP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
215893	NM_015910.7(WDPCP):c.985G>A (p.Val329Met)	WDPCP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
220911	NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn)	WDPCP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2240187	NM_015910.7(WDPCP):c.2068T>C (p.Ser690Pro)	WDPCP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
260679	NM_015910.7(WDPCP):c.1788C>T (p.Asp596=)	WDPCP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
336758	NM_015910.7(WDPCP):c.2169G>C (p.Leu723=)	WDPCP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 7 · Orphanet: 2 · 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
WDPCP	Definitive	Autosomal recessive	Bardet-Biedl syndrome 15	7

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
WDPCP	Orphanet:110	Bardet-Biedl syndrome
WDPCP	Orphanet:1338	Heart defect-tongue hamartoma-polysyndactyly 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
WDPCP	HGNC:28027	ENSG00000143951	O95876	WD repeat-containing and planar cell polarity effector protein fritz homolog	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
WDPCP	WD repeat-containing and planar cell polarity effector protein fritz homolog	Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements.

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)
WDPCP	Scaffold/PPI	no		WD40/YVTN_repeat-like_dom_sf, Frtz, 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
kidney epithelium	1
mucosa of paranasal sinus	1
pancreatic ductal cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
WDPCP	253	ubiquitous	marker	pancreatic ductal cell, kidney epithelium, mucosa of paranasal sinus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
WDPCP	787

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
WDPCP	O95876	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

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
regulation of embryonic cell shape	1	8426.0×	0.001	WDPCP
auditory receptor cell morphogenesis	1	4213.0×	0.001	WDPCP
septin cytoskeleton organization	1	4213.0×	0.001	WDPCP
tongue morphogenesis	1	3370.4×	0.001	WDPCP
digestive system development	1	3370.4×	0.001	WDPCP
respiratory system development	1	3370.4×	0.001	WDPCP
podocyte cell migration	1	2407.4×	0.002	WDPCP
regulation of ruffle assembly	1	2106.5×	0.002	WDPCP
circulatory system development	1	1404.3×	0.002	WDPCP
regulation of fibroblast migration	1	1296.3×	0.002	WDPCP
establishment of planar polarity	1	1053.2×	0.002	WDPCP
regulation of establishment of cell polarity	1	936.2×	0.002	WDPCP
cilium organization	1	601.9×	0.003	WDPCP
regulation of focal adhesion assembly	1	601.9×	0.003	WDPCP
regulation of cilium assembly	1	601.9×	0.003	WDPCP
intraciliary transport	1	561.7×	0.003	WDPCP
neural tube development	1	526.6×	0.003	WDPCP
establishment of protein localization	1	432.1×	0.003	WDPCP
camera-type eye development	1	358.6×	0.004	WDPCP
embryonic digit morphogenesis	1	300.9×	0.004	WDPCP
roof of mouth development	1	247.8×	0.005	WDPCP
regulation of protein localization	1	205.5×	0.006	WDPCP
smoothened signaling pathway	1	181.2×	0.006	WDPCP
kidney development	1	140.4×	0.008	WDPCP
cilium assembly	1	73.6×	0.014	WDPCP
nervous system development	1	45.9×	0.022	WDPCP

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
WDPCP	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	WDPCP

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)
WDPCP	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.