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Ciliopathies

Gene: TOPORS

Amber List (moderate evidence)
TOPORS (TOP1 binding arginine/serine rich protein)
EnsemblGeneIds (GRCh38): ENSG00000197579
EnsemblGeneIds (GRCh37): ENSG00000197579
OMIM: 609507, Gene2Phenotype
TOPORS is in 7 panels

3 reviews

Seb Lunke (Victorian Clinical Genetics Services)

Comment on list classification: Amber for recessive ciliopathy
Created: 7 Jan 2022, 4:21 a.m. | Last Modified: 7 Jan 2022, 4:21 a.m.
Panel Version: 1.16
Created: 7 Jan 2022, 4:21 a.m.
Last Modified: 7 Jan 2022, 4:21 a.m.
Panel version: 1.16

Dean Phelan (Victorian Clinical Genetics Services)

I don't know

PMID:34132027 - Two unrelated probands with postaxial polydactyly, multiple lingual hamartomas, and dysmorphic features both found to be homozygous for the same missense variant (p.Pro10Gln). Suggested possible founder allele.

Further search did not identify any additional publications.
Created: 7 Jan 2022, 4:14 a.m. | Last Modified: 7 Jan 2022, 4:14 a.m.
Panel Version: 1.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0005308; ciliopathy; postaxial polydactyly; multiple lingual hamartomas; dysmorphic features

Publications

Created: 7 Jan 2022, 4:14 a.m.
Last Modified: 7 Jan 2022, 4:14 a.m.
Panel version: 1.15

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

TOPORS is a ciliopathy protein localized to the base of the primary cilium (OMIM). No inheritance pattern noted in OMIM however AD appears to be consistent between 5 families currently reported.

PMID: 17924349; Chakarova 2007: Reported different het variants in 2 families. Haploinsufficiency suggested meechanism. Variants not present in gnomAD.

PMID: 28453362; Latasiewicz 2017: Het variant reported in one family.

PMID: 18509552; Bowne 2008: 2 additional adRP families reported.

Green in 'Retinal disorders' panel - PanelApp UK
Sources: Expert Review
Created: 20 May 2020, 4:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Retinitis pigmentosa 31 (MIM#609923)

Publications

Created: 20 May 2020, 4:26 a.m.

Panel version: 0.165

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ciliopathy, MONDO:0005308, TOPORS-associated
  • postaxial polydactyly, MONDO:0020927, TOPORS-related
  • multiple lingual hamartomas
OMIM
609507
Clinvar variants
Variants in TOPORS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jan 2022, Gel status: 2

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: TOPORS were changed from Retinitis pigmentosa 31 (MIM#609923) to ciliopathy, MONDO:0005308, TOPORS-associated; postaxial polydactyly, MONDO:0020927, TOPORS-related; multiple lingual hamartomas

7 Jan 2022, Gel status: 2

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: TOPORS were set to 21159800; 17924349; 28453362; 18509552

7 Jan 2022, Gel status: 2

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: TOPORS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

7 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: topors has been classified as Amber List (Moderate Evidence).

21 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: topors has been classified as Green List (High Evidence).

21 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: topors has been classified as Green List (High Evidence).

20 May 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Crystle Lee (Victorian Clinical Genetics Services)

gene: TOPORS was added gene: TOPORS was added to Ciliopathies. Sources: Expert Review Mode of inheritance for gene: TOPORS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TOPORS were set to 21159800; 17924349; 28453362; 18509552 Phenotypes for gene: TOPORS were set to Retinitis pigmentosa 31 (MIM#609923) Review for gene: TOPORS was set to GREEN