Inherited polyposis and early onset colorectal cancer - germline testing

Gene: RNF43

Green List (high evidence)

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

3 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 11:58 a.m. | Last Modified: 8 Mar 2022, 11:59 a.m.
Panel Version: 1.30

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, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Sessile serrated polyposis cancer syndrome, OMIM:617108
OMIM
612482
Clinvar variants
Variants in RNF43
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Added New Source, Set mode of inheritance, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to RNF43. Mode of inheritance for gene RNF43 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

8 Mar 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: RNF43 were set to

8 Mar 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RNF43 were changed from to Sessile serrated polyposis cancer syndrome, OMIM:617108

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