Inherited polyposis

Gene: RNF43

Amber List (moderate evidence)

RNF43 (ring finger protein 43)
EnsemblGeneIds (GRCh38): ENSG00000108375
EnsemblGeneIds (GRCh37): ENSG00000108375
OMIM: 612482, Gene2Phenotype
RNF43 is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
Created: 1 Feb 2019, 10:07 a.m.

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
OMIM
612482
Clinvar variants
Variants in RNF43
Penetrance
None
Panels with this gene

History Filter Activity

1 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: rnf43 has been classified as Amber List (Moderate Evidence).

30 Jan 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: RNF43 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: RNF43 was added gene: RNF43 was added to Inherited polyposis. Sources: NHS GMS Mode of inheritance for gene: RNF43 was set to