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Skeletal dysplasia

Gene: TOPORS

Red List (low evidence)

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

2 reviews

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, 3:34 a.m. | Last Modified: 7 Jan 2022, 3:34 a.m.
Panel Version: 0.10552

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Postaxial polydactyly:multiple lingual hamartomas:dysmorphic features

Publications

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

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TOPORS was added gene: TOPORS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory Mode of inheritance for gene: TOPORS was set to