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  3. TOPORS
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Polydactyly

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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. Further search did not identify any additional publications.

Note mono-allelic variants associated with RP.
Sources: Literature
Created: 11 Jan 2022, 1:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 11 Jan 2022, 1:31 a.m.

Panel version: 0.245

Details

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

History Filter Activity

11 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Jan 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TOPORS was added gene: TOPORS was added to Polydactyly. Sources: Literature Mode of inheritance for gene: TOPORS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOPORS were set to 34132027 Phenotypes for gene: TOPORS were set to MONDO:0005308; ciliopathy; postaxial polydactyly; multiple lingual hamartomas; dysmorphic features Review for gene: TOPORS was set to AMBER