ciliopathy
MONDO:0005308Mondo
Findings
No curated finding names ciliopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.
Definition from the Mondo Disease Ontology (MONDO:0005308), read 2026-09-29. CC BY 4.0.
Genes
63 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ARL2BPHGNC:17146
- Definitive · ClinGen · Autosomal recessive · 2025
- ARL6HGNC:13210
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- B9D1HGNC:24123
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- BBIP1HGNC:28093
- Definitive · ClinGen · Autosomal recessive · 2025
- CEP104HGNC:24866
- Definitive · ClinGen · Autosomal recessive · 2025
- CEP120HGNC:26690
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · ClinGen · Autosomal recessive · 2025
- CFAP410HGNC:1260
- Definitive · ClinGen · Autosomal recessive · 2026
- CFAP418HGNC:27232
- Definitive · ClinGen · Autosomal recessive · 2024
- DCDC2HGNC:18141
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- HGNC:12370HGNC:12370
- Definitive · ClinGen · Autosomal recessive · 2025
- HGNC:28027HGNC:28027
- Definitive · ClinGen · Autosomal recessive · 2024
- HGNC:29253HGNC:29253
- Definitive · ClinGen · Autosomal recessive · 2022
- IFT140HGNC:29077
- Definitive · Natera · Autosomal recessive · 2024
- IFT172HGNC:30391
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- IFT27HGNC:18626
- Definitive · ClinGen · Autosomal recessive · 2025
- IFT54HGNC:17861
- Definitive · ClinGen · Autosomal recessive · 2024
- IQCB1HGNC:28949
- Definitive · ClinGen · Autosomal recessive · 2024
- KATNIPHGNC:29068
- Definitive · ClinGen · Autosomal recessive · 2023
- KIF11HGNC:6388
- Definitive · Ambry Genetics · Autosomal dominant · 2025
- MKKSHGNC:7108
- Definitive · Natera · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- MKS1HGNC:7121
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · Natera · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- NPHP1HGNC:7905
- Definitive · Natera · Autosomal recessive · 2023
- NPHP3HGNC:7907
- Definitive · Natera · Autosomal recessive · 2023
- NPHP4HGNC:19104
- Definitive · Natera · Autosomal recessive · 2023
- RPGRIP1LHGNC:29168
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · Natera · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- SDCCAG8HGNC:10671
- Definitive · Natera · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025
- TBC1D32HGNC:21485
- Definitive · Illumina · Autosomal recessive · 2022
- Definitive · ClinGen · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2025
- TCTN1HGNC:26113
- Definitive · ClinGen · Autosomal recessive · 2026
- TCTN3HGNC:24519
- Definitive · ClinGen · Autosomal recessive · 2022
- TMEM138HGNC:26944
- Definitive · Natera · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2023
- TMEM216HGNC:25018
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · Natera · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- TMEM231HGNC:37234
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · Natera · Autosomal recessive · 2024
- TMEM67HGNC:28396
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · Natera · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- TOGARAM1HGNC:19959
- Definitive · G2P · Autosomal recessive · 2020
- Limited · Franklin by Genoox · Autosomal recessive · 2020
- TTC8HGNC:20087
- Definitive · Natera · Autosomal recessive · 2023
- WDR19HGNC:18340
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- B9D2HGNC:28636
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2023
- FUZHGNC:26219
- Strong · PanelApp Australia · Autosomal recessive · 2025
- IFT74HGNC:21424
- Strong · PanelApp Australia · Autosomal recessive · 2025
- POC5HGNC:26658
- Strong · PanelApp Australia · Autosomal recessive · 2025
- SCLT1HGNC:26406
- Strong · PanelApp Australia · Autosomal recessive · 2025
- TMEM107HGNC:28128
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2017
- TMEM218HGNC:27344
- Strong · G2P · Autosomal recessive · 2022
- TULP3HGNC:12425
- Strong · ClinGen · Autosomal recessive · 2022
- TXNDC15HGNC:20652
- Strong · ClinGen · Autosomal recessive · 2024
- WDR44HGNC:30512
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · G2P · X-linked · 2025
- CBY1HGNC:1307
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- IFT43HGNC:29669
- Moderate · ClinGen · Autosomal recessive · 2026
- Limited · Ambry Genetics · Autosomal recessive · 2025
- IFT57HGNC:17367
- Moderate · ClinGen · Autosomal recessive · 2025
- KIF3BHGNC:6320
- Moderate · Franklin by Genoox · Autosomal dominant · 2020
- Limited · G2P · Autosomal dominant · 2020
- PDE6DHGNC:8788
- Moderate · ClinGen · Autosomal recessive · 2025
- POC1BHGNC:30836
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- ZNF423HGNC:16762
- Moderate · ClinGen · Autosomal recessive · 2024
- ADAMTS9HGNC:13202
- Limited · ClinGen · Autosomal recessive · 2022
- CCP110HGNC:24342
- Limited · Ambry Genetics · Autosomal recessive · 2025
- DDX59HGNC:25360
- Limited · ClinGen · Autosomal recessive · 2023
- DLG5HGNC:2904
- Limited · Franklin by Genoox · Autosomal dominant · 2020
- Limited · Franklin by Genoox · Autosomal recessive · 2020
- DNAJB11HGNC:14889
- Limited · ClinGen · Autosomal recessive · 2022
- Limited · PanelApp Australia · Autosomal recessive · 2025
- DNAJC16HGNC:29157
- Limited · LiferaOmics · Autosomal recessive · 2026
- IFT81HGNC:14313
- Limited · Franklin by Genoox · Autosomal recessive · 2020
- LRRC45HGNC:28302
- Limited · Ambry Genetics · Autosomal recessive · 2024
- SUFUHGNC:16466
- Limited · ClinGen · Autosomal recessive · 2023
- TOPORSHGNC:21653
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- Narrower terms (36)
- Alsahan-Harris syndrome
- Alstrom syndrome
- ARL6-related ciliopathy
- Bardet-Biedl syndrome
- BBS1-related ciliopathy
- BBS10-related ciliopathy
- BBS12-related ciliopathy
- BBS2-related ciliopathy
- BBS4-related ciliopathy
- BBS5-related ciliopathy
- BBS7-related ciliopathy
- BBS9-related ciliopathy
- CEP164-related ciliopathy
- CEP290-related ciliopathy
- CFAP418-related ciliopathy
- ciliopathy-IFT74
- IFT140-related recessive ciliopathy
- INTU-related skeletal ciliopathy
- Jeune syndrome
- Joubert syndrome
- KIF7-related ciliopathy
- LZTFL1-related ciliopathy