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Colorectal Cancer and Polyposis v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Colorectal Cancer and Polyposis v1.0 Zornitza Stark promoted panel to version 1.0
Colorectal Cancer and Polyposis v0.41 Zornitza Stark Panel status changed from internal to public
Colorectal Cancer and Polyposis v0.40 TP53 Zornitza Stark Marked gene: TP53 as ready
Colorectal Cancer and Polyposis v0.40 TP53 Zornitza Stark Gene: tp53 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 STK11 Zornitza Stark Marked gene: STK11 as ready
Colorectal Cancer and Polyposis v0.40 STK11 Zornitza Stark Gene: stk11 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Colorectal Cancer and Polyposis v0.40 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 RNF43 Zornitza Stark Marked gene: RNF43 as ready
Colorectal Cancer and Polyposis v0.40 RNF43 Zornitza Stark Gene: rnf43 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 PTEN Zornitza Stark Marked gene: PTEN as ready
Colorectal Cancer and Polyposis v0.40 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 POLE Zornitza Stark Marked gene: POLE as ready
Colorectal Cancer and Polyposis v0.40 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 POLD1 Zornitza Stark Marked gene: POLD1 as ready
Colorectal Cancer and Polyposis v0.40 POLD1 Zornitza Stark Gene: pold1 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 PMS2 Zornitza Stark Marked gene: PMS2 as ready
Colorectal Cancer and Polyposis v0.40 PMS2 Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 NTHL1 Zornitza Stark Marked gene: NTHL1 as ready
Colorectal Cancer and Polyposis v0.40 NTHL1 Zornitza Stark Gene: nthl1 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 MUTYH Zornitza Stark Marked gene: MUTYH as ready
Colorectal Cancer and Polyposis v0.40 MUTYH Zornitza Stark Gene: mutyh has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 MSH6 Zornitza Stark Marked gene: MSH6 as ready
Colorectal Cancer and Polyposis v0.40 MSH6 Zornitza Stark Gene: msh6 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 MSH3 Zornitza Stark Marked gene: MSH3 as ready
Colorectal Cancer and Polyposis v0.40 MSH3 Zornitza Stark Gene: msh3 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 MSH2 Zornitza Stark Marked gene: MSH2 as ready
Colorectal Cancer and Polyposis v0.40 MSH2 Zornitza Stark Gene: msh2 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 MLH1 Zornitza Stark Marked gene: MLH1 as ready
Colorectal Cancer and Polyposis v0.40 MLH1 Zornitza Stark Gene: mlh1 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 GREM1 Zornitza Stark Marked gene: GREM1 as ready
Colorectal Cancer and Polyposis v0.40 GREM1 Zornitza Stark Gene: grem1 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 GREM1 Zornitza Stark Phenotypes for gene: GREM1 were changed from to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Hereditary mixed polyposis syndrome, MONDO:0011023; GREM1-associated polyposis, no MIM#
Colorectal Cancer and Polyposis v0.39 EPCAM Zornitza Stark Marked gene: EPCAM as ready
Colorectal Cancer and Polyposis v0.39 EPCAM Zornitza Stark Gene: epcam has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.39 BMPR1A Zornitza Stark Marked gene: BMPR1A as ready
Colorectal Cancer and Polyposis v0.39 BMPR1A Zornitza Stark Gene: bmpr1a has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.39 AXIN2 Zornitza Stark Marked gene: AXIN2 as ready
Colorectal Cancer and Polyposis v0.39 AXIN2 Zornitza Stark Gene: axin2 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.39 APC Zornitza Stark Marked gene: APC as ready
Colorectal Cancer and Polyposis v0.39 APC Zornitza Stark Gene: apc has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.39 MLH1 Chirag Patel Classified gene: MLH1 as Green List (high evidence)
Colorectal Cancer and Polyposis v0.39 MLH1 Chirag Patel Gene: mlh1 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.38 MSH2 Chirag Patel Classified gene: MSH2 as Green List (high evidence)
Colorectal Cancer and Polyposis v0.38 MSH2 Chirag Patel Gene: msh2 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.37 MSH6 Chirag Patel Classified gene: MSH6 as Green List (high evidence)
Colorectal Cancer and Polyposis v0.37 MSH6 Chirag Patel Gene: msh6 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.36 PMS2 Chirag Patel Classified gene: PMS2 as Green List (high evidence)
Colorectal Cancer and Polyposis v0.36 PMS2 Chirag Patel Gene: pms2 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.35 MUTYH Chirag Patel Classified gene: MUTYH as Green List (high evidence)
Colorectal Cancer and Polyposis v0.35 MUTYH Chirag Patel Gene: mutyh has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.34 NTHL1 Chirag Patel Classified gene: NTHL1 as Green List (high evidence)
Colorectal Cancer and Polyposis v0.34 NTHL1 Chirag Patel Gene: nthl1 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.33 MSH3 Chirag Patel Classified gene: MSH3 as Green List (high evidence)
Colorectal Cancer and Polyposis v0.33 MSH3 Chirag Patel Gene: msh3 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.32 GREM1 Chirag Patel Classified gene: GREM1 as Green List (high evidence)
Colorectal Cancer and Polyposis v0.32 GREM1 Chirag Patel Gene: grem1 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.31 RNF43 Chirag Patel Classified gene: RNF43 as Green List (high evidence)
Colorectal Cancer and Polyposis v0.31 RNF43 Chirag Patel Gene: rnf43 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.30 RNF43 Chirag Patel 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
Added comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.
Sources: Expert list, Expert Review, Literature
Colorectal Cancer and Polyposis v0.29 GREM1 Chirag Patel edited their review of gene: GREM1: Changed phenotypes: Colorectal cancer, MONDO:0005575, Polyposis, MONDO:0000147, Hereditary mixed polyposis syndrome, MONDO:0011023, GREM1-associated polyposis, no MIM#
Colorectal Cancer and Polyposis v0.29 GREM1 Chirag Patel gene: GREM1 was added
gene: GREM1 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review,Literature
Mode of inheritance for gene: GREM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GREM1 were set to PMID: 22561515, 25419707
Mode of pathogenicity for gene: GREM1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: GREM1 was set to GREEN
Added comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition. GOF variants.

Four variants leading to partial or complete duplication of GREM1 regulatory regions or coding sequences have been reported, resulting in increased allele-specific GREM1 expression. Most are carriers of the Ashkenazi founder variant, a 40kb duplication upstream of GREM1 (SCG5-GREM1 dup).
Sources: Expert list, Expert Review, Literature
Colorectal Cancer and Polyposis v0.28 MSH3 Chirag Patel gene: MSH3 was added
gene: MSH3 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review
Mode of inheritance for gene: MSH3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MSH3 were set to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Familial adenomatous polyposis 4, MONDO:0044300; Familial adenomatous polyposis 4, MIM#617100
Review for gene: MSH3 was set to GREEN
Added comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.
Sources: Expert list, Expert Review
Colorectal Cancer and Polyposis v0.27 NTHL1 Chirag Patel gene: NTHL1 was added
gene: NTHL1 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review
Mode of inheritance for gene: NTHL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NTHL1 were set to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; NTHL1-deficiency tumor predisposition syndrome, MONDO:0100502; Familial adenomatous polyposis 3, MIM#616415
Review for gene: NTHL1 was set to GREEN
Added comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.
Sources: Expert list, Expert Review
Colorectal Cancer and Polyposis v0.26 MUTYH Chirag Patel gene: MUTYH was added
gene: MUTYH was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review
Mode of inheritance for gene: MUTYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUTYH were set to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Familial adenomatous polyposis 2, MONDO:0012041; Adenomas, multiple colorectal, MIM#608456
Review for gene: MUTYH was set to GREEN
Added comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.
Sources: Expert list, Expert Review
Colorectal Cancer and Polyposis v0.25 PMS2 Chirag Patel gene: PMS2 was added
gene: PMS2 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review
Mode of inheritance for gene: PMS2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: PMS2 were set to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Lynch syndrome 4, MONDO:0013699; Mismatch repair cancer syndrome 4, MONDO:0030843; Lynch syndrome 4, MIM#614337; Mismatch repair cancer syndrome 4, MIM#619101
Review for gene: PMS2 was set to GREEN
Added comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.

Note: there is a high level of homology between PMS2 and pseudogenes
Sources: Expert list, Expert Review
Colorectal Cancer and Polyposis v0.24 MSH6 Chirag Patel gene: MSH6 was added
gene: MSH6 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review
Mode of inheritance for gene: MSH6 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: MSH6 were set to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Lynch syndrome 5, MONDO:0013710; Mismatch repair cancer syndrome 3, MONDO:0030841; Lynch syndrome 5, MIM#614350; Mismatch repair cancer syndrome 3, MIM#619097
Review for gene: MSH6 was set to GREEN
Added comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.
Sources: Expert list, Expert Review
Colorectal Cancer and Polyposis v0.23 MSH2 Chirag Patel gene: MSH2 was added
gene: MSH2 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review
Mode of inheritance for gene: MSH2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: MSH2 were set to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Lynch syndrome 1, MONDO:0007356; Mismatch repair cancer syndrome 2, MONDO:0030840; Lynch syndrome 1, MIM#120435; Mismatch repair cancer syndrome 2, MIM#619096
Review for gene: MSH2 was set to GREEN
Added comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.
Sources: Expert list, Expert Review
Colorectal Cancer and Polyposis v0.22 MLH1 Chirag Patel gene: MLH1 was added
gene: MLH1 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review
Mode of inheritance for gene: MLH1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: MLH1 were set to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Lynch syndrome 2, MONDO:0012249; Mismatch repair cancer syndrome 1, MONDO:0010159; Lynch syndrome 2, MIM#609310; Mismatch repair cancer syndrome 1, MIM#276300
Review for gene: MLH1 was set to GREEN
Added comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.
Sources: Expert list, Expert Review
Colorectal Cancer and Polyposis v0.21 TP53 Chirag Patel Classified gene: TP53 as Green List (high evidence)
Colorectal Cancer and Polyposis v0.21 TP53 Chirag Patel Gene: tp53 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.20 STK11 Chirag Patel Classified gene: STK11 as Green List (high evidence)
Colorectal Cancer and Polyposis v0.20 STK11 Chirag Patel Gene: stk11 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.19 APC Chirag Patel Classified gene: APC as Green List (high evidence)
Colorectal Cancer and Polyposis v0.19 APC Chirag Patel Gene: apc has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.18 APC Chirag Patel Classified gene: APC as Green List (high evidence)
Colorectal Cancer and Polyposis v0.18 APC Chirag Patel Gene: apc has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.17 AXIN2 Chirag Patel Classified gene: AXIN2 as Green List (high evidence)
Colorectal Cancer and Polyposis v0.17 AXIN2 Chirag Patel Gene: axin2 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.16 BMPR1A Chirag Patel Classified gene: BMPR1A as Green List (high evidence)
Colorectal Cancer and Polyposis v0.16 BMPR1A Chirag Patel Gene: bmpr1a has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.15 EPCAM Chirag Patel Classified gene: EPCAM as Green List (high evidence)
Colorectal Cancer and Polyposis v0.15 EPCAM Chirag Patel Gene: epcam has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.14 POLD1 Chirag Patel Classified gene: POLD1 as Green List (high evidence)
Colorectal Cancer and Polyposis v0.14 POLD1 Chirag Patel Gene: pold1 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.13 POLE Chirag Patel Classified gene: POLE as Green List (high evidence)
Colorectal Cancer and Polyposis v0.13 POLE Chirag Patel Gene: pole has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.12 PTEN Chirag Patel Classified gene: PTEN as Green List (high evidence)
Colorectal Cancer and Polyposis v0.12 PTEN Chirag Patel Gene: pten has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.11 SMAD4 Chirag Patel Classified gene: SMAD4 as Green List (high evidence)
Colorectal Cancer and Polyposis v0.11 SMAD4 Chirag Patel Gene: smad4 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.10 SMAD4 Chirag Patel edited their review of gene: SMAD4: Changed phenotypes: Colorectal cancer, MONDO:0005575, Polyposis, MONDO:0000147, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MONDO:0008278, Polyposis, juvenile intestinal, MIM#174900, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM#175050
Colorectal Cancer and Polyposis v0.10 PTEN Chirag Patel edited their review of gene: PTEN: Changed phenotypes: Colorectal cancer, MONDO:0005575, Polyposis, MONDO:0000147, PTEN hamartoma tumor syndrome, MONDO:0017623, PTEN hamartoma tumour syndromes, MIM#158350
Colorectal Cancer and Polyposis v0.10 POLE Chirag Patel edited their review of gene: POLE: Changed phenotypes: Colorectal cancer, MONDO:0005575, Polyposis, MONDO:0000147, POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287, POLE-associated polyposis, MIM#615083
Colorectal Cancer and Polyposis v0.10 POLD1 Chirag Patel edited their review of gene: POLD1: Changed phenotypes: Colorectal cancer, MONDO:0005575, Polyposis, MONDO:0000147, POLD1-related polyposis and colorectal cancer syndrome, MONDO:0100351, POLD1-associated polyposis, MIM#612591
Colorectal Cancer and Polyposis v0.10 EPCAM Chirag Patel edited their review of gene: EPCAM: Changed phenotypes: Colorectal cancer, MONDO:0005575, Polyposis, MONDO:0000147, Lynch syndrome 8, MONDO:0013196, Lynch syndrome 8, MIM#613244
Colorectal Cancer and Polyposis v0.10 BMPR1A Chirag Patel edited their review of gene: BMPR1A: Changed phenotypes: Colorectal cancer, MONDO:0005575, Polyposis, MONDO:0000147, Polyposis syndrome, hereditary mixed, 2, MONDO:0012405, Polyposis, juvenile intestinal, MIM#174900
Colorectal Cancer and Polyposis v0.10 AXIN2 Chirag Patel edited their review of gene: AXIN2: Changed phenotypes: Colorectal cancer, MONDO:0005575, Polyposis, MONDO:0000147, AXIN2-related attenuated familial adenomatous polyposis, MONDO:0018426, Oligodontia-cancer predisposition syndrome, MONDO:0012075, Oligodontia-colorectal cancer syndrome, MIM#608615
Colorectal Cancer and Polyposis v0.10 APC Chirag Patel edited their review of gene: APC: Changed phenotypes: Colorectal cancer, MONDO:0005575, Polyposis, MONDO:0000147, APC-related attenuated familial adenomatous polyposis, MONDO:0016613, Classic familial adenomatous polyposis, MONDO:0021055, Familial adenomatous polyposis 1, MONDO:0021056, Adenomatous polyposis coli, MIM#175100
Colorectal Cancer and Polyposis v0.10 STK11 Chirag Patel edited their review of gene: STK11: Changed phenotypes: Colorectal cancer, MONDO:0005575, Polyposis, MONDO:0000147, Peutz-Jeghers syndrome, MONDO:0008280, Peutz-Jeghers syndrome, MIM#175200
Colorectal Cancer and Polyposis v0.10 TP53 Chirag Patel gene: TP53 was added
gene: TP53 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review
Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TP53 were set to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Li-Fraumeni syndrome, MONDO:0018875; Li-Fraumeni syndrome, MIM#151623
Review for gene: TP53 was set to GREEN
Added comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.

Consider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy (PMID: 36040522).
Sources: Expert list, Expert Review
Colorectal Cancer and Polyposis v0.9 STK11 Chirag Patel gene: STK11 was added
gene: STK11 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review
Mode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STK11 were set to Peutz-Jeghers syndrome, MONDO:0008280; Peutz-Jeghers syndrome, MIM#175200
Review for gene: STK11 was set to GREEN
Added comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.

Single gene testing may be more appropriate if clinical features of JPS.
Sources: Expert list, Expert Review
Colorectal Cancer and Polyposis v0.8 SMAD4 Chirag Patel gene: SMAD4 was added
gene: SMAD4 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MONDO:0008278; Polyposis, juvenile intestinal, MIM#174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM#175050
Review for gene: SMAD4 was set to GREEN
Added comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.
Sources: Expert list, Expert Review
Colorectal Cancer and Polyposis v0.7 PTEN Chirag Patel gene: PTEN was added
gene: PTEN was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTEN were set to PTEN hamartoma tumor syndrome, MONDO:0017623; PTEN hamartoma tumour syndromes, MIM#158350
Review for gene: PTEN was set to GREEN
Added comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.
Sources: Expert list, Expert Review
Colorectal Cancer and Polyposis v0.6 POLE Chirag Patel gene: POLE was added
gene: POLE was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review
Mode of inheritance for gene: POLE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: POLE were set to POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287; POLE-associated polyposis, MIM#615083
Review for gene: POLE was set to GREEN
Added comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition. GOF variants.
Sources: Expert list, Expert Review
Colorectal Cancer and Polyposis v0.5 POLD1 Chirag Patel gene: POLD1 was added
gene: POLD1 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review
Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: POLD1 were set to POLD1-related polyposis and colorectal cancer syndrome, MONDO:0100351; POLD1-associated polyposis, MIM#612591
Mode of pathogenicity for gene: POLD1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: POLD1 was set to GREEN
Added comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition. GOF variants.
Sources: Expert list, Expert Review
Colorectal Cancer and Polyposis v0.4 EPCAM Chirag Patel gene: EPCAM was added
gene: EPCAM was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review
Mode of inheritance for gene: EPCAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EPCAM were set to Lynch syndrome 8, MONDO:0013196; Lynch syndrome 8, MIM#613244
Review for gene: EPCAM was set to GREEN
Added comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.

Deletion of 3’end of EPCAM gene leading to epigenetic silencing of adjacent downstream MSH2 gene.
Sources: Expert list, Expert Review
Colorectal Cancer and Polyposis v0.3 BMPR1A Chirag Patel gene: BMPR1A was added
gene: BMPR1A was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review
Mode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BMPR1A were set to Polyposis syndrome, hereditary mixed, 2, MONDO:0012405; Polyposis, juvenile intestinal, MIM#174900
Review for gene: BMPR1A was set to GREEN
Added comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.
Sources: Expert list, Expert Review
Colorectal Cancer and Polyposis v0.2 AXIN2 Chirag Patel gene: AXIN2 was added
gene: AXIN2 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review
Mode of inheritance for gene: AXIN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AXIN2 were set to AXIN2-related attenuated familial adenomatous polyposis, MONDO:0018426; Oligodontia-cancer predisposition syndrome, MONDO:0012075; Oligodontia-colorectal cancer syndrome, MIM#608615
Review for gene: AXIN2 was set to GREEN
Added comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.
Sources: Expert list, Expert Review
Colorectal Cancer and Polyposis v0.1 APC Chirag Patel gene: APC was added
gene: APC was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review
Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APC were set to APC-related attenuated familial adenomatous polyposis, MONDO:0016613; Classic familial adenomatous polyposis, MONDO:0021055; Familial adenomatous polyposis 1, MONDO:0021056; Adenomatous polyposis coli, MIM#175100
Review for gene: APC was set to GREEN
Added comment: ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.
Sources: Expert list, Expert Review
Colorectal Cancer and Polyposis v0.0 Chirag Patel Added Panel Colorectal Cancer and Polyposis
Set panel types to: Cancer Germline