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  3. RNF43
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Colorectal Cancer and Polyposis

Gene: RNF43

Green List (high evidence)
RNF43 (ring finger protein 43)
EnsemblGeneIds (GRCh38): ENSG00000108375
EnsemblGeneIds (GRCh37): ENSG00000108375
OMIM: 612482, Gene2Phenotype
RNF43 is in 1 panel

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.
Sources: Expert list, Expert Review, Literature
Created: 25 Sep 2024, 10:29 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Sessile serrated polyposis cancer syndrome, MONDO:0014919; Sessile serrated polyposis cancer syndrome, MIM#617108

Publications

Created: 25 Sep 2024, 10:29 p.m.

Panel version: 0.30

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review
  • Expert list
Phenotypes
  • Colorectal cancer, MONDO:0005575
  • Polyposis, MONDO:0000147
  • Sessile serrated polyposis cancer syndrome, MONDO:0014919
  • Sessile serrated polyposis cancer syndrome, MIM#617108
OMIM
612482
Clinvar variants
Variants in RNF43
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnf43 has been classified as Green List (High Evidence).

25 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: rnf43 has been classified as Green List (High Evidence).

25 Sep 2024, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: RNF43 was added gene: RNF43 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review,Literature Mode of inheritance for gene: RNF43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RNF43 were set to PMID: 24512911, 34541672, 27329244, 27081527, 29330307 Phenotypes for gene: RNF43 were set to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Sessile serrated polyposis cancer syndrome, MONDO:0014919; Sessile serrated polyposis cancer syndrome, MIM#617108 Review for gene: RNF43 was set to GREEN