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Inherited polyposis and early onset colorectal cancer - germline testing v2.10 | GREM1 | Arina Puzriakova edited their review of gene: GREM1: Changed publications to: 25992589, 26947005, 28242209, 27984123, 9024286, 10092300, 12696020, 18084292, 21128281, 22561515, 24586997, 26493165, 29804199, 25419707 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v2.10 | GREM1 |
Arina Puzriakova Tag currently-ngs-unreportable was removed from gene: GREM1. Tag gene-duplication was removed from gene: GREM1. |
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Inherited polyposis and early onset colorectal cancer - germline testing v2.10 | GREM1 |
Arina Puzriakova changed review comment from: Comment on list classification: Following review by the specialist service group, it has been agreed that this gene should be rated as Green at the next GMS panel update. Upregulation of GREM1 expression in colorectal mucosa has been linked to hereditary mixed polyposis syndrome. Most described patients are carriers of the Ashkenazi founder variant, a 40-kb upstream duplication that spans the 3' end of the neighbouring SCG5 gene. However, there are other duplications of different sizes that have been associated with disease (and some don’t incorporate the 3’ end of SCG5). There is currently no evidence of small variants or a whole gene duplication of GREM1 causing a similar phenotype. There is sufficient evidence to support a definitive gene-disease relationship but the providing GLH need to account for the upstream sequence location and size of reported variants in their primer design (as R211 (v2.10) is currently a purely wet-lab/non-WGS test).; to: Comment on list classification: Following review by the specialist service group, it has been agreed that this gene should be rated as Green at the next GMS panel update. Upregulation of GREM1 expression in colorectal mucosa has been linked to hereditary mixed polyposis syndrome. Most described patients are carriers of the Ashkenazi founder variant, a 40-kb upstream duplication that spans the 3' end of the neighbouring SCG5 gene. However, there are other duplications of different sizes that have been associated with disease (and some don’t incorporate the 3’ end of SCG5). There is currently no evidence of small variants or a whole gene duplication of GREM1 causing a similar phenotype. There is sufficient evidence to support a definitive gene-disease relationship but the providing GLH need to account for the upstream sequence location and size of reported variants in their primer design (as R211 v2.10 is currently a purely wet-lab/non-WGS test). |
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Inherited polyposis and early onset colorectal cancer - germline testing v2.10 | GREM1 |
Arina Puzriakova changed review comment from: Comment on list classification: Following review by the specialist service group, it has been agreed that this gene should be rated as Green at the next GMS panel update. Upregulation of GREM1 expression in colorectal mucosa has been linked to hereditary mixed polyposis syndrome. This is caused by a 40-kb upstream duplication that spans the 3' end of the neighbouring SCG5 gene. There is currently no evidence of small variants or a whole gene duplication of GREM1 (without SCG5 involvement) causing a similar phenotype. There is sufficient evidence to support a definitive gene-disease relationship but the providing GLH will have to account for the upstream sequence location and size of reported variants in their primer design (as R211 is currently a purely wet-lab/non-WGS test). The SCG5-GREM1 duplication would not be detected by the NGS pipeline and this should be considered if this clinical indication ever moves to WGS in the future.; to: Comment on list classification: Following review by the specialist service group, it has been agreed that this gene should be rated as Green at the next GMS panel update. Upregulation of GREM1 expression in colorectal mucosa has been linked to hereditary mixed polyposis syndrome. Most described patients are carriers of the Ashkenazi founder variant, a 40-kb upstream duplication that spans the 3' end of the neighbouring SCG5 gene. However, there are other duplications of different sizes that have been associated with disease (and some don’t incorporate the 3’ end of SCG5). There is currently no evidence of small variants or a whole gene duplication of GREM1 causing a similar phenotype. There is sufficient evidence to support a definitive gene-disease relationship but the providing GLH need to account for the upstream sequence location and size of reported variants in their primer design (as R211 (v2.10) is currently a purely wet-lab/non-WGS test). |
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Inherited polyposis and early onset colorectal cancer - germline testing v2.10 | GREM1 | Arina Puzriakova Publications for gene: GREM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v2.9 | GREM1 | Arina Puzriakova edited their review of gene: GREM1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v2.9 | GREM1 | Arina Puzriakova Classified gene: GREM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v2.9 | GREM1 |
Arina Puzriakova Added comment: Comment on list classification: Following review by the specialist service group, it has been agreed that this gene should be rated as Green at the next GMS panel update. Upregulation of GREM1 expression in colorectal mucosa has been linked to hereditary mixed polyposis syndrome. This is caused by a 40-kb upstream duplication that spans the 3' end of the neighbouring SCG5 gene. There is currently no evidence of small variants or a whole gene duplication of GREM1 (without SCG5 involvement) causing a similar phenotype. There is sufficient evidence to support a definitive gene-disease relationship but the providing GLH will have to account for the upstream sequence location and size of reported variants in their primer design (as R211 is currently a purely wet-lab/non-WGS test). The SCG5-GREM1 duplication would not be detected by the NGS pipeline and this should be considered if this clinical indication ever moves to WGS in the future. |
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Inherited polyposis and early onset colorectal cancer - germline testing v2.9 | GREM1 | Arina Puzriakova Gene: grem1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v2.8 | GREM1 | Arina Puzriakova Tag regulatory-region tag was added to gene: GREM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v2.8 | GREM1 |
Arina Puzriakova Tag regulatory-region was removed from gene: GREM1. Tag Q4_23_promote_green tag was added to gene: GREM1. Tag Q4_23_NHS_review tag was added to gene: GREM1. |
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Inherited polyposis and early onset colorectal cancer - germline testing v2.8 | GREM1 |
Arina Puzriakova Tag currently-ngs-unreportable tag was added to gene: GREM1. Tag gene-duplication tag was added to gene: GREM1. Tag regulatory-region tag was added to gene: GREM1. |
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Inherited polyposis and early onset colorectal cancer - germline testing v2.6 | GREM1 | Arina Puzriakova Mode of pathogenicity for gene: GREM1 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v2.5 | GREM1 |
Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes: Hereditary Mixed Polyposis Syndrome;Oligosyndactyly of the hands, Cenani-Linz-like (Dimitrov (2010) J Med Genet 47,569);Polyposis Syndrome, Hereditary Mixed, 1;Mixed polyposis syndrome (Jaeger (2012) Nat Genet 44,699);{Colorectal cancer, increased risk, association with}(Peters (2012) Hum Genet 131,217) |
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Inherited polyposis and early onset colorectal cancer - germline testing v2.5 | GREM1 | Arina Puzriakova Phenotypes for gene: GREM1 were changed from Hereditary Mixed Polyposis Syndrome; Oligosyndactyly of the hands, Cenani-Linz-like (Dimitrov (2010) J Med Genet 47,569); Polyposis Syndrome, Hereditary Mixed, 1; Mixed polyposis syndrome (Jaeger (2012) Nat Genet 44,699); {Colorectal cancer, increased risk, association with}(Peters (2012) Hum Genet 131,217) to Hereditary mixed polyposis syndrome, MONDO:0011023 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v2.4 | GREM1 | Kate Downes reviewed gene: GREM1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v2.4 | MBD4 |
Arina Puzriakova Tag Q3_22_rating was removed from gene: MBD4. Tag Q3_22_NHS_review was removed from gene: MBD4. Tag Q3_22_expert_review was removed from gene: MBD4. |
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Inherited polyposis and early onset colorectal cancer - germline testing v2.4 | MBD4 | Arina Puzriakova Source NHS GMS was added to MBD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v2.3 | MBD4 | Arina Puzriakova commented on gene: MBD4: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v2.1 | Arina Puzriakova Panel version 2.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v2.0 | Arina Puzriakova promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.33 |
Arina Puzriakova Panel name changed from Inherited polyposis to Inherited polyposis and early onset colorectal cancer - germline testing List of related panels changed from R211; R209 to Inherited polyposis; R211 |
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Inherited polyposis and early onset colorectal cancer - germline testing v1.32 | MBD4 |
Arina Puzriakova changed review comment from: Comment on list classification: This gene will be flagged for GMS expert review to determine the suitability of MBD4 for malignancy predisposition testing. MBD4 was first added by an external reviewer to the 'Haematological malignancies cancer susceptibility' panel (https://panelapp.genomicsengland.co.uk/panels/59/gene/MBD4/), however after GMS consideration it was decided that it should remain amber (v2.23). Loss of MBD4 leads to an accumulation of somatic CpG>TpG transitions, consistent with MBD4 function which involves repair of G:T mismatches resulting from deamination of 5'-methylcytosine. Germline MBD4 inactivation can therefore lead to somatic variation (i.e. CpG>TpG) in well-down cancer driver genes, in turn conferring cancer susceptibility. Although MBD4 itself does not directly drive oncogenesis, evidence suggests it may modify disease risk as shown by multiple cases reported in literature with this distinctive mutational signature. Given that there are now two separate Green clinical reviews suggesting this gene, it will again be flagged for further GMS review.; to: Comment on list classification: This gene will be flagged for GMS expert review to determine the suitability of MBD4 for malignancy predisposition testing. MBD4 was first added by an external reviewer to the 'Haematological malignancies cancer susceptibility' panel (https://panelapp.genomicsengland.co.uk/panels/59/gene/MBD4/), however after GMS consideration it was decided that it should remain amber (v2.23). Loss of MBD4 leads to an accumulation of somatic CpG>TpG transitions, consistent with MBD4 function which involves repair of G:T mismatches resulting from deamination of 5'-methylcytosine. Germline MBD4 inactivation can therefore lead to somatic variation (i.e. CpG>TpG) in well-known cancer driver genes, in turn conferring cancer susceptibility. Although MBD4 itself does not directly drive oncogenesis, evidence suggests it may modify disease risk as shown by multiple cases reported in literature with this distinctive mutational signature. Given that there are now two separate Green clinical reviews suggesting this gene, it will again be flagged for further GMS review. |
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Inherited polyposis and early onset colorectal cancer - germline testing v1.32 | MBD4 | Arina Puzriakova Classified gene: MBD4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.32 | MBD4 |
Arina Puzriakova Added comment: Comment on list classification: This gene will be flagged for GMS expert review to determine the suitability of MBD4 for malignancy predisposition testing. MBD4 was first added by an external reviewer to the 'Haematological malignancies cancer susceptibility' panel (https://panelapp.genomicsengland.co.uk/panels/59/gene/MBD4/), however after GMS consideration it was decided that it should remain amber (v2.23). Loss of MBD4 leads to an accumulation of somatic CpG>TpG transitions, consistent with MBD4 function which involves repair of G:T mismatches resulting from deamination of 5'-methylcytosine. Germline MBD4 inactivation can therefore lead to somatic variation (i.e. CpG>TpG) in well-down cancer driver genes, in turn conferring cancer susceptibility. Although MBD4 itself does not directly drive oncogenesis, evidence suggests it may modify disease risk as shown by multiple cases reported in literature with this distinctive mutational signature. Given that there are now two separate Green clinical reviews suggesting this gene, it will again be flagged for further GMS review. |
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Inherited polyposis and early onset colorectal cancer - germline testing v1.32 | MBD4 | Arina Puzriakova Gene: mbd4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.31 | MBD4 |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: MBD4. Tag Q3_22_NHS_review tag was added to gene: MBD4. Tag Q3_22_expert_review tag was added to gene: MBD4. |
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Inherited polyposis and early onset colorectal cancer - germline testing v1.31 | MBD4 | Arina Puzriakova Entity copied from GI tract tumours v1.22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.31 | MBD4 |
Arina Puzriakova gene: MBD4 was added gene: MBD4 was added to Inherited polyposis. Sources: Literature,Expert Review Amber Mode of inheritance for gene: MBD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MBD4 were set to 12417741; 30049810; 32239153; 35460607 Phenotypes for gene: MBD4 were set to Multi-organ tumour predisposition syndrome; Adenomatous colorectal polyposis; Colorectal cancer; Acute myeloid leukemia; Uveal melanoma Penetrance for gene: MBD4 were set to Complete |
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Inherited polyposis and early onset colorectal cancer - germline testing v1.30 | RNF43 | Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.30 | RNF43 | Arina Puzriakova commented on gene: RNF43 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.29 | RNF43 |
Arina Puzriakova 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) |
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Inherited polyposis and early onset colorectal cancer - germline testing v1.28 | AXIN2 | Arina Puzriakova Tag Q4_21_rating was removed from gene: AXIN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.28 | AXIN2 | Arina Puzriakova edited their review of gene: AXIN2: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.28 | AXIN2 | Arina Puzriakova commented on gene: AXIN2: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed as it was determined that there is insufficient evidence to rate as green on this panel - 'There does not seem to be strong grounds for including this gene as a green gene currently. heterozygous mutations in AXIN2 have very rarely been shown to cause ectodermal dysplasia (including tooth agenesis, or more specifically, oligodontia), and, in some carriers, colorectal cancer and/or adenomatous polyposis develops. Think including now would potentially be problematic in terms of interpretation. Very few reports even considering GEL submissions. May be better as a stand alone syndromic test? One to keep under review' | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.26 | AXIN2 | Arina Puzriakova Classified gene: AXIN2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.26 | AXIN2 | Arina Puzriakova Gene: axin2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.25 | AXIN2 |
Arina Puzriakova gene: AXIN2 was added gene: AXIN2 was added to Inherited polyposis. Sources: Literature Q4_21_rating tags were added to gene: AXIN2. Mode of inheritance for gene: AXIN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AXIN2 were set to 15042511; 21416598; 30671715; 32807118; 34637023 Phenotypes for gene: AXIN2 were set to Oligodontia-colorectal cancer syndrome, OMIM:608615 Review for gene: AXIN2 was set to GREEN Added comment: AXIN2 is associated with a relevant phenotype in OMIM (MIM# 608615) but is not yet listed in Gen2Phen. At least 6 unrelated families reported with colorectal cancer and/or colon polyps due to monoallelic variants in the AXIN2. This is often concurrent with oligodontia. Sufficient cases to rate as Green on this panel. Sources: Literature |
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Inherited polyposis and early onset colorectal cancer - germline testing v1.24 | RNF43 | Arina Puzriakova Publications for gene: RNF43 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.23 | RNF43 | Arina Puzriakova Phenotypes for gene: RNF43 were changed from to Sessile serrated polyposis cancer syndrome, OMIM:617108 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.22 | MSH3 | Arina Puzriakova Publications for gene: MSH3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.21 | MSH3 | Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Endometrial carcinoma, somatic (MIM# 608089) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.21 | MSH3 | Arina Puzriakova Phenotypes for gene: MSH3 were changed from to Familial adenomatous polyposis 4, OMIM:617100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.20 | STK11 | Arina Puzriakova Phenotypes for gene: STK11 were changed from Peutz-Jeghers syndrome 175200 to Peutz-Jeghers syndrome, OMIM:175200; Peutz-Jeghers syndrome, MONDO:0008280 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.19 | SMAD4 | Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Myhre syndrome (MIM# 139210) and Pancreatic cancer, somatic (MIM# 260350) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.19 | SMAD4 | Arina Puzriakova Phenotypes for gene: SMAD4 were changed from Polyposis, juvenile intestinal, 174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 to Polyposis, juvenile intestinal, OMIM:174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.18 | PTEN | Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Glioma susceptibility 2} (MIM# 613028); {Meningioma} (MIM# 607174); Macrocephaly/autism syndrome (MIM# 605309); Prostate cancer, somatic (MIM# 176807) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.18 | PTEN | Arina Puzriakova Phenotypes for gene: PTEN were changed from Bannayan-Riley-Ruvalcaba syndrome 153480 AD; Cowden syndrome 1 158350; PTEN hamartoma tumor syndrome to Cowden syndrome 1, OMIM:158350; Lhermitte-Duclos syndrome, OMIM:158350; Cowden syndrome 1, MONDO:0008021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.17 | POLE | Arina Puzriakova Added comment: Comment on phenotypes: Biallelic variants in this gene are associated with FILS syndrome (MIM# 615139) and IMAGE-I syndrome (MIM# 618336) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.17 | POLE | Arina Puzriakova Phenotypes for gene: POLE were changed from {Colorectal cancer, susceptibility to, 12} 615083 AD to {Colorectal cancer, susceptibility to, 12}, OMIM:615083 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.16 | POLD1 | Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MIM# 615381) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.16 | POLD1 | Arina Puzriakova Phenotypes for gene: POLD1 were changed from {Colorectal cancer, susceptibility to, 10} 612591 to {Colorectal cancer, susceptibility to, 10}, OMIM:612591; Colorectal cancer, susceptibility to, 10, MONDO:0012953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.15 | PMS2 | Arina Puzriakova Phenotypes for gene: PMS2 were changed from Colorectal cancer, hereditary nonpolyposis, type 4 614337; Mismatch repair cancer syndrome 276300 AR to Colorectal cancer, hereditary nonpolyposis, type 4, OMIM:614337; Mismatch repair cancer syndrome 4, OMIM:619101 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.14 | NTHL1 | Arina Puzriakova Phenotypes for gene: NTHL1 were changed from Familial adenomatous polyposis 3, OMIM:616415 to Familial adenomatous polyposis 3, OMIM:616415; NTHL1-related attenuated familial adenomatous polyposis, MONDO:0014630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.13 | NTHL1 | Arina Puzriakova Phenotypes for gene: NTHL1 were changed from Familial adenomatous polyposis 3 616415 to Familial adenomatous polyposis 3, OMIM:616415 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.12 | MUTYH | Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Gastric cancer, somatic (MIM# 613659) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.12 | MUTYH | Arina Puzriakova Phenotypes for gene: MUTYH were changed from Gastrointestinal and Colorectal Cancer High Risk Adenomas, multiple colorectal 608456 to Adenomas, multiple colorectal, OMIM:608456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.11 | MSH6 | Arina Puzriakova Phenotypes for gene: MSH6 were changed from Mismatch repair cancer syndrome 276300 AR; Colorectal cancer, hereditary nonpolyposis, type 5 614350 AD; Endometrial cancer, familial 608089 to Mismatch repair cancer syndrome, OMIM:276300; Colorectal cancer, hereditary nonpolyposis, type 5, OMIM:614350; Endometrial cancer, familial, OMIM:608089 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.10 | MSH2 | Arina Puzriakova Phenotypes for gene: MSH2 were changed from Muir-Torre syndrome 158320 AD; Colorectal cancer, hereditary nonpolyposis, type 1 120435 AD; Mismatch repair cancer syndrome 276300 AR to Muir-Torre syndrome, OMIM:158320; Colorectal cancer, hereditary nonpolyposis, type 1, OMIM:120435; Mismatch repair cancer syndrome, OMIM:276300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.9 | MLH1 | Arina Puzriakova Phenotypes for gene: MLH1 were changed from Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Mismatch repair cancer syndrome, OMIM:276300; Muir-Torre syndrome OMIM:158320 to Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Mismatch repair cancer syndrome, OMIM:276300; Muir-Torre syndrome, OMIM:158320 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.8 | MLH1 | Arina Puzriakova Phenotypes for gene: MLH1 were changed from Mismatch repair cancer syndrome 276300 AR; Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer; Muir-Torre syndrome 158320 AD to Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Mismatch repair cancer syndrome, OMIM:276300; Muir-Torre syndrome OMIM:158320 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.7 | EPCAM | Arina Puzriakova Added comment: Comment on phenotypes: Biallelic variants in this gene are associated with Diarrhea 5, with tufting enteropathy, congenital (MIM# 613217) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.7 | EPCAM | Arina Puzriakova Phenotypes for gene: EPCAM were changed from Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer to Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.6 | BMPR1A | Arina Puzriakova Phenotypes for gene: BMPR1A were changed from Gastrointestinal and Colorectal Cancer; Polyposis syndrome, hereditary mixed, 2, 610069; Juvenile polyposis syndrome, infantile form, 174900; Juvenile Polyposis Syndrome; Polyposis, juvenile intestinal, 174900; High Risk Colorectal Cancer; juvenile polyposis to Polyposis syndrome, hereditary mixed, 2, OMIM:610069; Polyposis, juvenile intestinal, OMIM:174900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.5 | APC | Arina Puzriakova Phenotypes for gene: APC were changed from Desmoid disease, hereditary 135290; Brain tumor-polyposis syndrome 2 175100; Gardner syndrome 175100; Adenomatous polyposis coli 175100 to Desmoid disease, hereditary, OMIM:135290; Brain tumor-polyposis syndrome 2, OMIM:175100; Gardner syndrome, OMIM:175100; Adenomatous polyposis coli, OMIM:175100; Gastric adenocarcinoma and proximal polyposis of the stomach, OMIM:619182 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v1.0 | Rebecca Foulger promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.56 | Rebecca Foulger Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.55 | NTHL1 | Ivone Leong Classified gene: NTHL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.55 | NTHL1 | Ivone Leong Added comment: Comment on list classification: This gene has been promoted from amber to green after further discussion with the GMS Inherited Cancer Specialist Test Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.55 | NTHL1 | Ivone Leong Gene: nthl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.53 | Ivone Leong List of related panels changed from R211 to R211; R209 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.51 | MSH3 | Ivone Leong Added comment: Comment on mode of inheritance: Corrected the MOI. Changed Monoallelic to Biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.51 | MSH3 | Ivone Leong Mode of inheritance for gene: MSH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | NTHL1 | Ivone Leong Added phenotypes Familial adenomatous polyposis 3 616415 for gene: NTHL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | GREM1 | Ivone Leong Added phenotypes Hereditary Mixed Polyposis Syndrome; Oligosyndactyly of the hands, Cenani-Linz-like (Dimitrov (2010) J Med Genet 47,569); Polyposis Syndrome, Hereditary Mixed, 1; Mixed polyposis syndrome (Jaeger (2012) Nat Genet 44,699); {Colorectal cancer, increased risk, association with}(Peters (2012) Hum Genet 131,217) for gene: GREM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | STK11 | Ivone Leong Added phenotypes Peutz-Jeghers syndrome 175200 for gene: STK11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | SMAD4 | Ivone Leong Added phenotypes Polyposis, juvenile intestinal, 174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 for gene: SMAD4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | PTEN | Ivone Leong Added phenotypes Bannayan-Riley-Ruvalcaba syndrome 153480 AD; Cowden syndrome 1 158350; PTEN hamartoma tumor syndrome for gene: PTEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | POLE | Ivone Leong Added phenotypes {Colorectal cancer, susceptibility to, 12} 615083 AD for gene: POLE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | POLD1 | Ivone Leong Added phenotypes {Colorectal cancer, susceptibility to, 10} 612591 for gene: POLD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | PMS2 | Ivone Leong Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4 614337; Mismatch repair cancer syndrome 276300 AR for gene: PMS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | MUTYH | Ivone Leong Added phenotypes Gastrointestinal and Colorectal Cancer High Risk Adenomas, multiple colorectal 608456 for gene: MUTYH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | MSH6 | Ivone Leong Added phenotypes Mismatch repair cancer syndrome 276300 AR; Colorectal cancer, hereditary nonpolyposis, type 5 614350 AD; Endometrial cancer, familial 608089 for gene: MSH6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | MSH2 | Ivone Leong Added phenotypes Muir-Torre syndrome 158320 AD; Colorectal cancer, hereditary nonpolyposis, type 1 120435 AD; Mismatch repair cancer syndrome 276300 AR for gene: MSH2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | MLH1 | Ivone Leong Added phenotypes Mismatch repair cancer syndrome 276300 AR; Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer; Muir-Torre syndrome 158320 AD for gene: MLH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | EPCAM | Ivone Leong Added phenotypes Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer for gene: EPCAM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | BMPR1A | Ivone Leong Added phenotypes Gastrointestinal and Colorectal Cancer; Polyposis syndrome, hereditary mixed, 2, 610069; Juvenile polyposis syndrome, infantile form, 174900; Juvenile Polyposis Syndrome; Polyposis, juvenile intestinal, 174900; High Risk Colorectal Cancer; juvenile polyposis for gene: BMPR1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | APC | Ivone Leong Added phenotypes Desmoid disease, hereditary 135290; Brain tumor-polyposis syndrome 2 175100; Gardner syndrome 175100; Adenomatous polyposis coli 175100 for gene: APC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.49 | EPCAM | Ivone Leong commented on gene: EPCAM: Deletion of exons 8-9 is associated with polyposis/cancer and therefore testing would be for dosage analysis rather than sequencing. SNVs in EPCAM are not associated with polyposis/cancer. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.49 |
Ivone Leong Panel name changed from Inherited polyposis, R211 to Inherited polyposis List of related panels changed from to R211 |
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Inherited polyposis and early onset colorectal cancer - germline testing v0.48 | POLD1 | Ivone Leong commented on gene: POLD1: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.48 | PMS2 | Ivone Leong commented on gene: PMS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.48 | MUTYH | Ivone Leong commented on gene: MUTYH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.48 | MSH6 | Ivone Leong commented on gene: MSH6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.48 | MLH1 | Ivone Leong commented on gene: MLH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.48 | MSH2 | Ivone Leong commented on gene: MSH2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.48 | EPCAM | Ivone Leong commented on gene: EPCAM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.48 | BMPR1A | Ivone Leong commented on gene: BMPR1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.48 | APC | Ivone Leong commented on gene: APC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.48 | Ivone Leong Panel name changed from Inherited polyposis to Inherited polyposis, R211 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.47 | POLE | Ivone Leong Classified gene: POLE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.47 | POLE | Ivone Leong Added comment: 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 green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.47 | POLE | Ivone Leong Gene: pole has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.46 | POLD1 | Ivone Leong Classified gene: POLD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.46 | POLD1 | Ivone Leong Added comment: 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 green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.46 | POLD1 | Ivone Leong Gene: pold1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.45 | NTHL1 | Ivone Leong Classified gene: NTHL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.45 | NTHL1 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.45 | NTHL1 | Ivone Leong Gene: nthl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.44 | GREM1 | Ivone Leong Classified gene: GREM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.44 | GREM1 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.44 | GREM1 | Ivone Leong Gene: grem1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.43 | RNF43 | Ivone Leong Classified gene: RNF43 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.43 | RNF43 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.43 | RNF43 | Ivone Leong Gene: rnf43 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.42 | MSH3 | Ivone Leong Classified gene: MSH3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.42 | MSH3 | Ivone Leong Added comment: 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 as cases in this gene is rare. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.42 | MSH3 | Ivone Leong Gene: msh3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.41 | GREM1 | Ivone Leong Classified gene: GREM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.41 | GREM1 | Ivone Leong Gene: grem1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.40 | POLE | Ivone Leong Classified gene: POLE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.40 | POLE | Ivone Leong Gene: pole has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.39 | POLD1 | Ivone Leong Classified gene: POLD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.39 | POLD1 | Ivone Leong Gene: pold1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.38 | POLD1 | Ivone Leong Classified gene: POLD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.38 | POLD1 | Ivone Leong Gene: pold1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.37 | NTHL1 | Ivone Leong Classified gene: NTHL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.37 | NTHL1 | Ivone Leong Gene: nthl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.35 | POLE | Ivone Leong Mode of inheritance for gene: POLE was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.34 | POLD1 | Ivone Leong Mode of inheritance for gene: POLD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.33 | NTHL1 | Ivone Leong Mode of inheritance for gene: NTHL1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.32 | STK11 | Ivone Leong Mode of inheritance for gene: STK11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.31 | SMAD4 | Ivone Leong Mode of inheritance for gene: SMAD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.30 | RNF43 | Ivone Leong Mode of inheritance for gene: RNF43 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.29 | PTEN | Ivone Leong Mode of inheritance for gene: PTEN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.28 | PMS2 | Ivone Leong Mode of inheritance for gene: PMS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.27 | MUTYH | Ivone Leong Mode of inheritance for gene: MUTYH was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.26 | MSH6 | Ivone Leong Mode of inheritance for gene: MSH6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.25 | MSH3 | Ivone Leong Mode of inheritance for gene: MSH3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.24 | MSH2 | Ivone Leong Mode of inheritance for gene: MSH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.23 | MLH1 | Ivone Leong Mode of inheritance for gene: MLH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.22 | GREM1 | Ivone Leong Mode of inheritance for gene: GREM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.21 | EPCAM | Ivone Leong Mode of inheritance for gene: EPCAM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.20 | BMPR1A | Ivone Leong Mode of inheritance for gene: BMPR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.19 | APC | Ivone Leong Mode of inheritance for gene: APC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.17 | STK11 | Ivone Leong Classified gene: STK11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.17 | STK11 | Ivone Leong Gene: stk11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.16 | SMAD4 | Ivone Leong Classified gene: SMAD4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.16 | SMAD4 | Ivone Leong Gene: smad4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.15 | RNF43 | Ivone Leong Classified gene: RNF43 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.15 | RNF43 | Ivone Leong Gene: rnf43 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.14 | PTEN | Ivone Leong Classified gene: PTEN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.14 | PTEN | Ivone Leong Gene: pten has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.13 | PMS2 | Ivone Leong Classified gene: PMS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.13 | PMS2 | Ivone Leong Gene: pms2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.12 | MUTYH | Ivone Leong Classified gene: MUTYH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.12 | MUTYH | Ivone Leong Gene: mutyh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.11 | MSH6 | Ivone Leong Classified gene: MSH6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.11 | MSH6 | Ivone Leong Gene: msh6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.10 | MSH3 | Ivone Leong Classified gene: MSH3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.10 | MSH3 | Ivone Leong Gene: msh3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.9 | MSH2 | Ivone Leong Classified gene: MSH2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.9 | MSH2 | Ivone Leong Gene: msh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.8 | MLH1 | Ivone Leong Classified gene: MLH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.8 | MLH1 | Ivone Leong Gene: mlh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.7 | GREM1 | Ivone Leong Classified gene: GREM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.7 | GREM1 | Ivone Leong Gene: grem1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.6 | EPCAM | Ivone Leong Classified gene: EPCAM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.6 | EPCAM | Ivone Leong Gene: epcam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.5 | BMPR1A | Ivone Leong Classified gene: BMPR1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.5 | BMPR1A | Ivone Leong Gene: bmpr1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.4 | APC | Ivone Leong Classified gene: APC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.4 | APC | Ivone Leong Gene: apc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | RNF43 | Rachel Robinson reviewed gene: RNF43: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | STK11 | Rachel Robinson reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | SMAD4 | Rachel Robinson reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | PTEN | Rachel Robinson reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | PMS2 | Rachel Robinson reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | POLD1 | Rachel Robinson reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | POLE | Rachel Robinson reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | NTHL1 | Rachel Robinson reviewed gene: NTHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | MUTYH | Rachel Robinson reviewed gene: MUTYH: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | MSH3 | Rachel Robinson reviewed gene: MSH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27476653; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | MSH6 | Rachel Robinson reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | MSH2 | Rachel Robinson reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | MLH1 | Rachel Robinson reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | GREM1 | Rachel Robinson reviewed gene: GREM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | EPCAM | Rachel Robinson reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | BMPR1A | Rachel Robinson reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | APC | Rachel Robinson reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | POLD1 | Lara Hawkes reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | NTHL1 | Lara Hawkes reviewed gene: NTHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | POLE | Lara Hawkes reviewed gene: POLE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | STK11 | Lara Hawkes reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | SMAD4 | Lara Hawkes reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | PTEN | Lara Hawkes reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | PMS2 | Lara Hawkes reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | MUTYH | Lara Hawkes reviewed gene: MUTYH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | MSH6 | Lara Hawkes reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | MSH2 | Lara Hawkes reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | MLH1 | Lara Hawkes reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | BMPR1A | Lara Hawkes reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | APC | Lara Hawkes reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited polyposis and early onset colorectal cancer - germline testing v0.2 | RNF43 |
Ivone Leong gene: RNF43 was added gene: RNF43 was added to Inherited polyposis. Sources: NHS GMS Mode of inheritance for gene: RNF43 was set to |
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Inherited polyposis and early onset colorectal cancer - germline testing v0.2 | MSH3 |
Ivone Leong gene: MSH3 was added gene: MSH3 was added to Inherited polyposis. Sources: NHS GMS Mode of inheritance for gene: MSH3 was set to |
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Inherited polyposis and early onset colorectal cancer - germline testing v0.2 | GREM1 |
Ivone Leong gene: GREM1 was added gene: GREM1 was added to Inherited polyposis. Sources: NHS GMS Mode of inheritance for gene: GREM1 was set to |
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Inherited polyposis and early onset colorectal cancer - germline testing v0.2 | EPCAM |
Ivone Leong gene: EPCAM was added gene: EPCAM was added to Inherited polyposis. Sources: NHS GMS Mode of inheritance for gene: EPCAM was set to |
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Inherited polyposis and early onset colorectal cancer - germline testing v0.2 | POLD1 |
Ivone Leong gene: POLD1 was added gene: POLD1 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: POLD1 was set to |
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Inherited polyposis and early onset colorectal cancer - germline testing v0.2 | NTHL1 |
Ivone Leong gene: NTHL1 was added gene: NTHL1 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: NTHL1 was set to |
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Inherited polyposis and early onset colorectal cancer - germline testing v0.2 | POLE |
Ivone Leong gene: POLE was added gene: POLE was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: POLE was set to |
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Inherited polyposis and early onset colorectal cancer - germline testing v0.2 | STK11 |
Ivone Leong gene: STK11 was added gene: STK11 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: STK11 was set to |
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Inherited polyposis and early onset colorectal cancer - germline testing v0.2 | SMAD4 |
Ivone Leong gene: SMAD4 was added gene: SMAD4 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: SMAD4 was set to |
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Inherited polyposis and early onset colorectal cancer - germline testing v0.2 | PTEN |
Ivone Leong gene: PTEN was added gene: PTEN was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: PTEN was set to |
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Inherited polyposis and early onset colorectal cancer - germline testing v0.2 | PMS2 |
Ivone Leong gene: PMS2 was added gene: PMS2 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: PMS2 was set to |
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Inherited polyposis and early onset colorectal cancer - germline testing v0.2 | MUTYH |
Ivone Leong gene: MUTYH was added gene: MUTYH was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: MUTYH was set to |
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Inherited polyposis and early onset colorectal cancer - germline testing v0.2 | MSH6 |
Ivone Leong gene: MSH6 was added gene: MSH6 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: MSH6 was set to |
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Inherited polyposis and early onset colorectal cancer - germline testing v0.2 | MSH2 |
Ivone Leong gene: MSH2 was added gene: MSH2 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: MSH2 was set to |
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Inherited polyposis and early onset colorectal cancer - germline testing v0.2 | MLH1 |
Ivone Leong gene: MLH1 was added gene: MLH1 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: MLH1 was set to |
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Inherited polyposis and early onset colorectal cancer - germline testing v0.2 | BMPR1A |
Ivone Leong gene: BMPR1A was added gene: BMPR1A was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: BMPR1A was set to |
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Inherited polyposis and early onset colorectal cancer - germline testing v0.2 | APC |
Ivone Leong gene: APC was added gene: APC was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: APC was set to |
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Inherited polyposis and early onset colorectal cancer - germline testing v0.0 |
Ellen McDonagh Added Panel Inherited polyposis Set panel types to: GMS Rare Disease |