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Rare multisystem ciliopathy disorders


Red List (low evidence)

TOPORS (TOP1 binding arginine/serine rich protein)
EnsemblGeneIds (GRCh38): ENSG00000197579
EnsemblGeneIds (GRCh37): ENSG00000197579
OMIM: 609507, Gene2Phenotype
TOPORS is in 8 panels

2 reviews

Zornitza Stark (Australian Genomics)

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.

Mono-allelic variants in this gene previously linked to RP.
Created: 3 Feb 2022, 9:37 p.m. | Last Modified: 3 Feb 2022, 9:37 p.m.
Panel Version: 1.157

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ciliopathy, MONDO:0005308, TOPORS-associated, AR


Alice Gardham (Genomics England)

Comment when marking as ready: Retinitis pigmentosa not included in this panel
Created: 25 Jan 2017, 9:44 a.m.

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

25 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

25 Nov 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TOPORS was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory

25 Nov 2016, Gel status: 0


Ellen McDonagh (Genomics England Curator)

TOPORS was created by ellenmcdonagh