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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.
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).
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).
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.
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.
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.
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)
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 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 v0.44 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 v0.41 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 v0.22 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 v0.7 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 v0.3 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 v0.2 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