BBS10 — Bardet-Biedl syndrome 10

5 sources retrieved · Most recent: April 2026 · Index updated 3 months ago

43PubMed Papers

#9,793 · top 50% of 19K genes

21Diseases

top 20%

0Drugs

267Pathogenic Variants

top 4%

OMIM Disease GeneVariant-RichExperimental GO EvidenceSwiss-Prot Reviewed

regulation of protein-containing complex assemblychaperone-mediated protein complex assemblyprotein bindingRNA polymerase II-specific DNA-binding transcription factor bindingBardet-Biedl syndrome 10Bardet-Biedl syndromeBardet-Biedl syndrome 1Retinal dystrophy

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Bardet-Biedl syndrome 10

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations21

Bardet-Biedl syndrome 10Open Targets

0.84Strong

Bardet-Biedl syndromeOpen Targets

0.71Strong

Bardet-Biedl syndrome 1Open Targets

0.63Moderate

Retinal dystrophyOpen Targets

0.55Moderate

genetic disorderOpen Targets

0.50Moderate

polydactylyOpen Targets

0.46Moderate

BBS10-related ciliopathyOpen Targets

0.41Moderate

retinitis pigmentosaOpen Targets

0.40Weak

obesityOpen Targets

0.37Weak

eye diseaseOpen Targets

0.37Weak

Intellectual disabilityOpen Targets

0.34Weak

Foot polydactylyOpen Targets

0.34Weak

High-frequency hearing impairmentOpen Targets

0.34Weak

macular degenerationOpen Targets

0.34Weak

Postaxial hand polydactylyOpen Targets

0.34Weak

asphyxiating thoracic dystrophy 3Open Targets

0.33Weak

short rib-polydactyly syndrome, Majewski typeOpen Targets

0.33Weak

Benign Thyroid Gland NeoplasmOpen Targets

0.20Weak

joint diseaseOpen Targets

0.20Weak

Abnormality of the integumentOpen Targets

0.15Weak

Bardet-Biedl syndrome 10UniProt

Pathogenic Variants267

NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)Pathogenic

★★☆☆2026→ Residue 49

NM_024685.4(BBS10):c.306_309del (p.Asp102fs)Pathogenic

not provided|Bardet-Biedl syndrome|Bardet-Biedl syndrome 10|BBS10-related ciliopathy

★★☆☆2026→ Residue 102

NM_024685.4(BBS10):c.687del (p.Val230fs)Pathogenic

Bardet-Biedl syndrome|Bardet-Biedl syndrome 10|not provided|BBS10-related disorder

★★☆☆2026→ Residue 230

NM_024685.4(BBS10):c.9_10insAT (p.Ser4fs)Pathogenic

Bardet-Biedl syndrome 10|Bardet-Biedl syndrome

★★☆☆2026→ Residue 4

NM_024685.4(BBS10):c.1184A>G (p.His395Arg)Pathogenic

Bardet-Biedl syndrome|Bardet-Biedl syndrome 10

★★☆☆2026→ Residue 395

NM_024685.4(BBS10):c.271dup (p.Cys91fs)Pathogenic

★★☆☆2026→ Residue 91

NM_024685.4(BBS10):c.1407T>G (p.Tyr469Ter)Pathogenic

Bardet-Biedl syndrome 10|Bardet-Biedl syndrome

★★☆☆2026→ Residue 469

NM_024685.4(BBS10):c.2137_2140del (p.Lys713fs)Likely pathogenic

not provided|Bardet-Biedl syndrome 10

★★☆☆2026→ Residue 713

NM_024685.4(BBS10):c.1804G>C (p.Val602Leu)Pathogenic

Bardet-Biedl syndrome|Bardet-Biedl syndrome 1|Bardet-Biedl syndrome 10|BBS10-related disorder

★★☆☆2026→ Residue 602

NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs)Pathogenic

Bardet-Biedl syndrome 10|Bardet-Biedl syndrome

★★☆☆2026→ Residue 350

NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)Pathogenic

Bardet-Biedl syndrome 10|Bardet-Biedl syndrome|not provided

★★☆☆2025→ Residue 284

NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter)Pathogenic

Bardet-Biedl syndrome 10|Bardet-Biedl syndrome

★★☆☆2025→ Residue 624

NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs)Pathogenic

Bardet-Biedl syndrome 10|Bardet-Biedl syndrome|not provided

★★☆☆2025→ Residue 3

NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter)Pathogenic

Bardet-Biedl syndrome 10|Bardet-Biedl syndrome

★★☆☆2025→ Residue 464

NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)Pathogenic

Bardet-Biedl syndrome 10|Bardet-Biedl syndrome|Retinal dystrophy|not provided|BBS10-related disorder

★★☆☆2025→ Residue 559

NM_024685.4(BBS10):c.539G>A (p.Gly180Glu)Pathogenic

Bardet-Biedl syndrome 10|Bardet-Biedl syndrome

★★☆☆2025→ Residue 180

NM_024685.4(BBS10):c.909_912del (p.Ser303fs)Pathogenic

not provided|Bardet-Biedl syndrome|Bardet-Biedl syndrome 10|Bardet-biedl syndrome 1/10, digenic|BBS10-related disorder

★★☆☆2025→ Residue 303

NM_024685.4(BBS10):c.1399del (p.Arg467fs)Pathogenic

Bardet-Biedl syndrome|Bardet-Biedl syndrome 10

★★☆☆2025→ Residue 467

NM_024685.4(BBS10):c.1244del (p.His415fs)Pathogenic

Bardet-Biedl syndrome 10|Bardet-Biedl syndrome

★★☆☆2025→ Residue 415

NM_024685.4(BBS10):c.235dup (p.Thr79fs)Pathogenic

Bardet-Biedl syndrome 10|not provided|Retinal dystrophy|Bardet-Biedl syndrome

★★☆☆2025→ Residue 79

Tissue Expression6 tissues

Heart

100%

Brain

76%

Liver

50%

Lung

46%

Ovary

45%

Bone Marrow

11%

Gene Interaction Network6 neighbors

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StructureAlphaFold

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AlphaFoldAI-predicted · UniProt Q8TAM1

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ConstraintgnomAD v4.1

LOEUFⓘ

1.42LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF0.92 [0.62–1.42]

Rankings3 dim

Where BBS10 stands among ~20K protein-coding genes

#9,695of 20,598
Most Researched43
#241of 5,509
Most Pathogenic Variants267 · top 5%
#14,628of 17,882
Most Constrained (LOEUF)1.42