| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Inherited MMR deficiency (Lynch syndrome) v1.9 | PMS2 | Arina Puzriakova Phenotypes for gene: PMS2 were changed from to Colorectal cancer, hereditary nonpolyposis, type 4, OMIM:614337; Colorectal cancer, hereditary nonpolyposis, type 4, MONDO:0013699; Lynch syndrome 1, MONDO:0007356 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v1.8 | MSH6 | Arina Puzriakova Phenotypes for gene: MSH6 were changed from to Colorectal cancer, hereditary nonpolyposis, type 5, OMIM:614350; Colorectal cancer, hereditary nonpolyposis, type 5, MONDO:0013710; Lynch syndrome 1, MONDO:0007356 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v1.7 | MLH1 | Arina Puzriakova Phenotypes for gene: MLH1 were changed from Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Colorectal cancer, hereditary nonpolyposis, type 2, MONDO:0012249 to Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Colorectal cancer, hereditary nonpolyposis, type 2, MONDO:0012249; Lynch syndrome 1, MONDO:0007356 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v1.6 | MSH2 | Arina Puzriakova Phenotypes for gene: MSH2 were changed from to Colorectal cancer, hereditary nonpolyposis, type 1, OMIM:120435; Lynch syndrome 1, MONDO:0007356 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v1.5 | MLH1 | Arina Puzriakova Phenotypes for gene: MLH1 were changed from to Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Colorectal cancer, hereditary nonpolyposis, type 2, MONDO:0012249 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v1.4 | EPCAM | Arina Puzriakova Phenotypes for gene: EPCAM were changed from to Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244; Colorectal cancer, hereditary nonpolyposis, type 8, MONDO:0013196 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v1.0 | Ivone Leong promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.12 |
Ivone Leong Panel name changed from Inherited MMR deficiency (Lynch syndrome), R210 to Inherited MMR deficiency (Lynch syndrome) List of related panels changed from to R210 Panel types changed to GMS Rare Disease; GMS signed-off |
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| Inherited MMR deficiency (Lynch syndrome) v0.11 | PMS2 | Ivone Leong commented on gene: PMS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.11 | MSH6 | Ivone Leong commented on gene: MSH6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.11 | MSH2 | Ivone Leong commented on gene: MSH2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.11 | MLH1 | Ivone Leong commented on gene: MLH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.11 | EPCAM | Ivone Leong commented on gene: EPCAM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.11 | Ivone Leong Panel name changed from Inherited MMR deficiency (Lynch syndrome) to Inherited MMR deficiency (Lynch syndrome), R210 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.9 | PMS2 | Ivone Leong Mode of inheritance for gene: PMS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.8 | MSH6 | Ivone Leong Mode of inheritance for gene: MSH6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.7 | MSH2 | Ivone Leong Mode of inheritance for gene: MSH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.6 | MLH1 | Ivone Leong Mode of inheritance for gene: MLH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.5 | EPCAM | Ivone Leong Mode of inheritance for gene: EPCAM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.3 | PMS2 | Rachel Robinson reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.3 | MSH6 | Rachel Robinson reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.3 | MSH2 | Rachel Robinson reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.3 | MLH1 | Rachel Robinson reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.3 | EPCAM | Rachel Robinson reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.3 | PMS2 | Lara Hawkes reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.3 | MSH6 | Lara Hawkes reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.3 | MSH2 | Lara Hawkes reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.3 | MLH1 | Lara Hawkes reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.3 | EPCAM | Lara Hawkes reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.2 | PMS2 |
Ivone Leong gene: PMS2 was added gene: PMS2 was added to Inherited MMR deficiency (Lynch syndrome). Sources: Expert List,Expert Review Green,NHS GMS Mode of inheritance for gene: PMS2 was set to |
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| Inherited MMR deficiency (Lynch syndrome) v0.2 | MSH6 |
Ivone Leong gene: MSH6 was added gene: MSH6 was added to Inherited MMR deficiency (Lynch syndrome). Sources: Expert List,Expert Review Green,NHS GMS Mode of inheritance for gene: MSH6 was set to |
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| Inherited MMR deficiency (Lynch syndrome) v0.2 | MSH2 |
Ivone Leong gene: MSH2 was added gene: MSH2 was added to Inherited MMR deficiency (Lynch syndrome). Sources: Expert List,Expert Review Green,NHS GMS Mode of inheritance for gene: MSH2 was set to |
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| Inherited MMR deficiency (Lynch syndrome) v0.2 | MLH1 |
Ivone Leong gene: MLH1 was added gene: MLH1 was added to Inherited MMR deficiency (Lynch syndrome). Sources: Expert List,Expert Review Green,NHS GMS Mode of inheritance for gene: MLH1 was set to |
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| Inherited MMR deficiency (Lynch syndrome) v0.2 | EPCAM |
Ivone Leong gene: EPCAM was added gene: EPCAM was added to Inherited MMR deficiency (Lynch syndrome). Sources: Expert List,Expert Review Green,NHS GMS Mode of inheritance for gene: EPCAM was set to |
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| Inherited MMR deficiency (Lynch syndrome) v0.0 |
Ellen McDonagh Added Panel Inherited MMR deficiency (Lynch syndrome) Set panel types to: GMS Rare Disease |
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