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Endometrial Cancer v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Endometrial Cancer v1.0 Zornitza Stark promoted panel to version 1.0
Endometrial Cancer v0.21 Zornitza Stark Panel status changed from internal to public
Endometrial Cancer v0.20 TP53 Zornitza Stark Marked gene: TP53 as ready
Endometrial Cancer v0.20 TP53 Zornitza Stark Gene: tp53 has been classified as Green List (High Evidence).
Endometrial Cancer v0.20 PTEN Zornitza Stark Marked gene: PTEN as ready
Endometrial Cancer v0.20 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Endometrial Cancer v0.20 POLE Zornitza Stark Marked gene: POLE as ready
Endometrial Cancer v0.20 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Endometrial Cancer v0.20 POLD1 Zornitza Stark Marked gene: POLD1 as ready
Endometrial Cancer v0.20 POLD1 Zornitza Stark Gene: pold1 has been classified as Green List (High Evidence).
Endometrial Cancer v0.20 PMS2 Zornitza Stark Marked gene: PMS2 as ready
Endometrial Cancer v0.20 PMS2 Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence).
Endometrial Cancer v0.20 MSH6 Zornitza Stark Marked gene: MSH6 as ready
Endometrial Cancer v0.20 MSH6 Zornitza Stark Gene: msh6 has been classified as Green List (High Evidence).
Endometrial Cancer v0.20 MSH2 Zornitza Stark Marked gene: MSH2 as ready
Endometrial Cancer v0.20 MSH2 Zornitza Stark Gene: msh2 has been classified as Green List (High Evidence).
Endometrial Cancer v0.20 MLH1 Zornitza Stark Marked gene: MLH1 as ready
Endometrial Cancer v0.20 MLH1 Zornitza Stark Gene: mlh1 has been classified as Green List (High Evidence).
Endometrial Cancer v0.20 EPCAM Zornitza Stark Marked gene: EPCAM as ready
Endometrial Cancer v0.20 EPCAM Zornitza Stark Gene: epcam has been classified as Green List (High Evidence).
Endometrial Cancer v0.20 BRCA1 Zornitza Stark Marked gene: BRCA1 as ready
Endometrial Cancer v0.20 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Endometrial Cancer v0.20 POLE Chirag Patel Classified gene: POLE as Green List (high evidence)
Endometrial Cancer v0.20 POLE Chirag Patel Gene: pole has been classified as Green List (High Evidence).
Endometrial Cancer v0.19 POLD1 Chirag Patel Classified gene: POLD1 as Green List (high evidence)
Endometrial Cancer v0.19 POLD1 Chirag Patel Gene: pold1 has been classified as Green List (High Evidence).
Endometrial Cancer v0.18 TP53 Chirag Patel Classified gene: TP53 as Green List (high evidence)
Endometrial Cancer v0.18 TP53 Chirag Patel Gene: tp53 has been classified as Green List (High Evidence).
Endometrial Cancer v0.17 PTEN Chirag Patel Classified gene: PTEN as Green List (high evidence)
Endometrial Cancer v0.17 PTEN Chirag Patel Gene: pten has been classified as Green List (High Evidence).
Endometrial Cancer v0.16 EPCAM Chirag Patel Classified gene: EPCAM as Green List (high evidence)
Endometrial Cancer v0.16 EPCAM Chirag Patel Gene: epcam has been classified as Green List (High Evidence).
Endometrial Cancer v0.15 BRCA1 Chirag Patel Classified gene: BRCA1 as Green List (high evidence)
Endometrial Cancer v0.15 BRCA1 Chirag Patel Gene: brca1 has been classified as Green List (High Evidence).
Endometrial Cancer v0.14 PMS2 Chirag Patel Classified gene: PMS2 as Green List (high evidence)
Endometrial Cancer v0.14 PMS2 Chirag Patel Gene: pms2 has been classified as Green List (High Evidence).
Endometrial Cancer v0.13 MSH6 Chirag Patel Classified gene: MSH6 as Green List (high evidence)
Endometrial Cancer v0.13 MSH6 Chirag Patel Gene: msh6 has been classified as Green List (High Evidence).
Endometrial Cancer v0.12 MSH2 Chirag Patel Classified gene: MSH2 as Green List (high evidence)
Endometrial Cancer v0.12 MSH2 Chirag Patel Gene: msh2 has been classified as Green List (High Evidence).
Endometrial Cancer v0.11 MLH1 Chirag Patel Classified gene: MLH1 as Green List (high evidence)
Endometrial Cancer v0.11 MLH1 Chirag Patel Gene: mlh1 has been classified as Green List (High Evidence).
Endometrial Cancer v0.10 POLE Chirag Patel gene: POLE was added
gene: POLE was added to Endometrial Cancer. 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 Endometrial cancer, MONDO:0011962; POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287; POLE-associated polyposis, MIM#615083
Mode of pathogenicity for gene: POLE 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: POLE was set to GREEN
Added comment: ClinGen definitive. Endometrial cancers reported in condition. GOF variants.
Sources: Expert list, Expert Review
Endometrial Cancer v0.9 POLD1 Chirag Patel gene: POLD1 was added
gene: POLD1 was added to Endometrial Cancer. 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 Endometrial cancer, MONDO:0011962; 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. Endometrial cancers reported in condition. GOF variants.
Sources: Expert list, Expert Review
Endometrial Cancer v0.8 TP53 Chirag Patel gene: TP53 was added
gene: TP53 was added to Endometrial Cancer. 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 Endometrial cancer, MONDO:0011962; Li-Fraumeni syndrome, MONDO:0018875; Li-Fraumeni syndrome, MIM#151623
Review for gene: TP53 was set to GREEN
Added comment: ClinGen definitive. Endometrial cancers 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
Endometrial Cancer v0.7 PTEN Chirag Patel gene: PTEN was added
gene: PTEN was added to Endometrial Cancer. 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 Endometrial cancer, MONDO:0011962; PTEN hamartoma tumor syndrome, MONDO:0017623; PTEN hamartoma tumour syndromes, MIM#158350
Review for gene: PTEN was set to GREEN
Added comment: ClinGen definitive. Endometrial cancers reported in condition.
Sources: Expert list, Expert Review
Endometrial Cancer v0.6 EPCAM Chirag Patel gene: EPCAM was added
gene: EPCAM was added to Endometrial Cancer. 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 Endometrial cancer, MONDO:0011962; Lynch syndrome 8, MONDO:0013196; Lynch syndrome 8, MIM#613244
Review for gene: EPCAM was set to GREEN
Added comment: ClinGen definitive. Endometrial cancers reported in condition.

Deletion of 3’end of EPCAM gene leading to epigenetic silencing of adjacent downstream MSH2 gene.
Sources: Expert list, Expert Review
Endometrial Cancer v0.5 BRCA1 Chirag Patel gene: BRCA1 was added
gene: BRCA1 was added to Endometrial Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRCA1 were set to Endometrial cancer, MONDO:0011962; BRCA1-related cancer predisposition, MONDO:0700268; Breast-ovarian cancer, familial, 1, MIM#604370
Review for gene: BRCA1 was set to GREEN
Added comment: ClinGen definitive. Endometrial cancers reported in condition.
Sources: Expert list, Expert Review
Endometrial Cancer v0.4 PMS2 Chirag Patel gene: PMS2 was added
gene: PMS2 was added to Endometrial Cancer. 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 Endometrial cancer, MONDO:0011962; 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. Endometrial cancers reported in condition.

Note: there is a high level of homology between PMS2 and pseudogenes
Sources: Expert list, Expert Review
Endometrial Cancer v0.3 MSH6 Chirag Patel gene: MSH6 was added
gene: MSH6 was added to Endometrial Cancer. 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 Endometrial cancer, MONDO:0011962; 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. Endometrial cancers reported in condition.
Sources: Expert list, Expert Review
Endometrial Cancer v0.2 MSH2 Chirag Patel gene: MSH2 was added
gene: MSH2 was added to Endometrial Cancer. 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 Endometrial cancer, MONDO:0011962; 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. Endometrial cancers reported in condition.
Sources: Expert list, Expert Review
Endometrial Cancer v0.1 MLH1 Chirag Patel gene: MLH1 was added
gene: MLH1 was added to Endometrial Cancer. 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 Endometrial cancer, MONDO:0011962; 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. Endometrial cancers reported in condition.
Sources: Expert list, Expert Review
Endometrial Cancer v0.0 Chirag Patel Added Panel Endometrial Cancer
Set panel types to: Cancer Germline