Ophthalmological ciliopathies
Gene: TOPORSEnsemblGeneIds (GRCh38): ENSG00000197579
EnsemblGeneIds (GRCh37): ENSG00000197579
OMIM: 609507, Gene2Phenotype
TOPORS is in 10 panels
2 reviews
Ida Ertmanska (Genomics England Curator)
Comment on list classification: There are 4 probands reported in literature with Joubert syndrome and the same homozygous missense variant in TOPORS (p.Pro10Gln). All 4 individuals are of Dominican ancestry. Hence, this is likely a founder allele, and the gene should be rated Red, until more evidence emerges for the association. A founder-efffect tag was added.Created: 3 Nov 2026, 11:36 a.m. | Last Modified: 3 Nov 2026, 11:36 a.m.
Panel Version: 6.2
PMID: 40358237 Lob & Brown, 2025
Report of a 12-month-old Dominican boy with a Dandy-Walker malformation (DWM, anomaly of cerebellar development), trigeminal neuralgia, molar tooth sign, mesoaxial polydactyly of hands and feet, hypotonia, and developmental delay. He was diagnosed with OFDS VI / Joubert syndrome. He was homozygous for TOPORS: c.29 C>A, p.Pro10Gln.
PMID: 37227088 Strong et al., 2023
Report of a proband of Dominican ancestry with Joubert syndrome. Exome seq showed he was homozygous for the c.29C>A, p.(Pro10Gln) variant in TOPORS.
PMID: 34132027 Strong et al., 2021
Study described two unrelated Dominican probands with oral cavity malformations, dysmorphic features, postaxial polydactyly, multiple lingual hamartomas, and dysmorphic features. Molar tooth sign also seen in Patient 2 - indicative of Joubert syndrome. Both patients were found to be homozygous for an identical TOPORS missense variant, c.29 C>A; (p.Pro10Gln). NO haplotype analysis. Variant may represent a Dominican Republic founder allele. 31 hets and no homozygotes reported in gnomAD v4.1.2. (MAF = 0.0001000, Admixed American pop).
TOPORS is not yet associated with a recessive disease entity in OMIM (heterozygous TOPORS variants between residues 807-867 are known to cause Retinitis pigmentosa 31) - OMIM accessed 3rd Nov 2026.Created: 3 Nov 2026, 11:34 a.m. | Last Modified: 3 Nov 2026, 11:34 a.m.
Panel Version: 6.2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome, MONDO:0018772
Publications
Alice Gardham (Genomics England)
Comment when marking as ready: Retinitis pigmentosa not included in this panelCreated: 25 Jan 2017, 9:44 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Joubert syndrome, MONDO:0018772
- Tags
- OMIM
- 609507
- Clinvar variants
- Variants in TOPORS
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ida Ertmanska (Genomics England Curator)Phenotypes for gene: TOPORS were changed from Ciliopathies to Joubert syndrome, MONDO:0018772
Set publications
Ida Ertmanska (Genomics England Curator)Publications for gene: TOPORS were set to
Set mode of inheritance
Ida Ertmanska (Genomics England Curator)Mode of inheritance for gene: TOPORS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added Tag
Ida Ertmanska (Genomics England Curator)Tag founder-effect tag was added to gene: TOPORS.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TOPORS was added gene: TOPORS was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert Review Red Mode of inheritance for gene: TOPORS was set to Phenotypes for gene: TOPORS were set to Ciliopathies