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Endocrine neoplasms v1.25 VHL Ivone Leong Tag for-review was removed from gene: VHL.
Endocrine neoplasms v1.25 TP53 Ivone Leong Tag for-review was removed from gene: TP53.
Endocrine neoplasms v1.25 TP53 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Endocrine neoplasms v1.25 PRKAR1A Ivone Leong Tag for-review was removed from gene: PRKAR1A.
Endocrine neoplasms v1.25 VHL Ivone Leong commented on gene: VHL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Endocrine neoplasms v1.25 TP53 Ivone Leong commented on gene: TP53: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Endocrine neoplasms v1.25 PRKAR1A Ivone Leong commented on gene: PRKAR1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Endocrine neoplasms v1.24 VHL Ivone Leong Source Expert Review Green was added to VHL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Endocrine neoplasms v1.24 PRKAR1A Ivone Leong Source Expert Review Green was added to PRKAR1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Endocrine neoplasms v1.23 CDKN1B Arina Puzriakova Phenotypes for gene: CDKN1B were changed from Endocrine Cancer; Multiple Endocrine Neoplasia; Multiple endocrine neoplasia, type IV, 610755 to Multiple endocrine neoplasia, type IV, OMIM:610755
Endocrine neoplasms v1.22 PTEN Ivone Leong Tag Q2_21_rating tag was added to gene: PTEN.
Tag Q2_21_NHS_review tag was added to gene: PTEN.
Endocrine neoplasms v1.22 MLH1 Ivone Leong Tag Q2_21_rating tag was added to gene: MLH1.
Tag Q2_21_NHS_review tag was added to gene: MLH1.
Endocrine neoplasms v1.22 MSH2 Ivone Leong Tag Q2_21_rating tag was added to gene: MSH2.
Tag Q2_21_NHS_review tag was added to gene: MSH2.
Endocrine neoplasms v1.22 MSH6 Ivone Leong Tag Q2_21_rating tag was added to gene: MSH6.
Tag Q2_21_NHS_review tag was added to gene: MSH6.
Endocrine neoplasms v1.22 PMS2 Ivone Leong Tag Q2_21_rating tag was added to gene: PMS2.
Tag Q2_21_NHS_review tag was added to gene: PMS2.
Endocrine neoplasms v1.22 PMS2 Ivone Leong Classified gene: PMS2 as Amber List (moderate evidence)
Endocrine neoplasms v1.22 PMS2 Ivone Leong Gene: pms2 has been classified as Amber List (Moderate Evidence).
Endocrine neoplasms v1.21 PMS2 Ivone Leong gene: PMS2 was added
gene: PMS2 was added to Endocrine neoplasms. Sources: Expert Review
Q2_21_phenotype tags were added to gene: PMS2.
Mode of inheritance for gene: PMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: PMS2 was set to AMBER
Added comment: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene has been given an Amber rating and will reviewed by GMS before Green status is given.
Sources: Expert Review
Endocrine neoplasms v1.20 MSH6 Ivone Leong Classified gene: MSH6 as Amber List (moderate evidence)
Endocrine neoplasms v1.20 MSH6 Ivone Leong Gene: msh6 has been classified as Amber List (Moderate Evidence).
Endocrine neoplasms v1.19 MSH6 Ivone Leong gene: MSH6 was added
gene: MSH6 was added to Endocrine neoplasms. Sources: Expert list
Q2_21_phenotype tags were added to gene: MSH6.
Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: MSH6 was set to AMBER
Added comment: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene has been given an Amber rating and will reviewed by GMS before Green status is given.
Sources: Expert list
Endocrine neoplasms v1.18 MSH2 Ivone Leong Classified gene: MSH2 as Amber List (moderate evidence)
Endocrine neoplasms v1.18 MSH2 Ivone Leong Gene: msh2 has been classified as Amber List (Moderate Evidence).
Endocrine neoplasms v1.17 MSH2 Ivone Leong gene: MSH2 was added
gene: MSH2 was added to Endocrine neoplasms. Sources: Expert list
Q2_21_phenotype tags were added to gene: MSH2.
Mode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: MSH2 was set to AMBER
Added comment: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene has been given an Amber rating and will reviewed by GMS before Green status is given.
Sources: Expert list
Endocrine neoplasms v1.16 MLH1 Ivone Leong Classified gene: MLH1 as Amber List (moderate evidence)
Endocrine neoplasms v1.16 MLH1 Ivone Leong Gene: mlh1 has been classified as Amber List (Moderate Evidence).
Endocrine neoplasms v1.15 MLH1 Ivone Leong gene: MLH1 was added
gene: MLH1 was added to Endocrine neoplasms. Sources: Expert list
Q2_21_phenotype tags were added to gene: MLH1.
Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: MLH1 was set to AMBER
Added comment: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene has been given an Amber rating and will reviewed by GMS before Green status is given.
Sources: Expert list
Endocrine neoplasms v1.14 VHL Ivone Leong changed review comment from: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service).

This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.

This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert Review; to: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.

This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert Review
Endocrine neoplasms v1.14 TP53 Ivone Leong changed review comment from: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service).

This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.

This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert Review; to: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.

This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert Review
Endocrine neoplasms v1.14 PRKAR1A Ivone Leong changed review comment from: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service).

This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.

This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert Review; to: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.

This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert Review
Endocrine neoplasms v1.14 PTEN Ivone Leong changed review comment from: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene has been given an Amber rating and will be given Green status pending decision by the GMS review panel.
Sources: Expert list; to: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene has been given an Amber rating and will reviewed by GMS before Green status is given.
Sources: Expert list
Endocrine neoplasms v1.14 PTEN Ivone Leong Classified gene: PTEN as Amber List (moderate evidence)
Endocrine neoplasms v1.14 PTEN Ivone Leong Gene: pten has been classified as Amber List (Moderate Evidence).
Endocrine neoplasms v1.13 PTEN Ivone Leong gene: PTEN was added
gene: PTEN was added to Endocrine neoplasms. Sources: Expert list
Q2_21_phenotype tags were added to gene: PTEN.
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: PTEN was set to AMBER
Added comment: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene has been given an Amber rating and will be given Green status pending decision by the GMS review panel.
Sources: Expert list
Endocrine neoplasms v1.12 EGFR Eleanor Williams Classified gene: EGFR as Amber List (moderate evidence)
Endocrine neoplasms v1.12 EGFR Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber. More than one case of patient with ACC and germline variants in EGFR. But no family history/segregation data to further confirm the disease association.
Endocrine neoplasms v1.12 EGFR Eleanor Williams Gene: egfr has been classified as Amber List (Moderate Evidence).
Endocrine neoplasms v1.11 EGFR Eleanor Williams changed review comment from: PMID: 33326033 - Akhavanfard et al 2020 - identified a heterozygous germline variant in EGFR (c.3238 G>A, p.Asp1080Asn) in a 21 year old female with metastatic bilateral Adrenocortical carcinoma (ACC). Then they analyzed germline exome data from 21 children, 32 adolescents and young adults (15-39y), and 60 adult participants with ACC. 3.5% of all 113 ACC cases had at least a highly prioritized VUS germline EGFR variant, compared to only 0.3% in a non-TCGA (The Cancer Genome Atlas) ExAC control group (P < 0.0001). No segregation data.
Sources: Literature; to: PMID: 33326033 - Akhavanfard et al 2020 - identified a heterozygous germline variant in EGFR (c.3238 G>A, p.Asp1080Asn) in a 21 year old female with metastatic bilateral Adrenocortical carcinoma (ACC). Then they analyzed germline exome data from 21 children, 32 adolescents and young adults (15-39y), and 60 adult participants with ACC. 3.5% of all 113 ACC cases had at least a highly prioritized VUS germline EGFR variant, compared to only 0.3% in a non-TCGA (The Cancer Genome Atlas) ExAC control group (P < 0.0001). In the adolescents and young adults group 6.2% had ECGR variants. No segregation data.
Sources: Literature
Endocrine neoplasms v1.11 EGFR Eleanor Williams gene: EGFR was added
gene: EGFR was added to Endocrine neoplasms. Sources: Literature
Mode of inheritance for gene: EGFR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EGFR were set to 33326033
Phenotypes for gene: EGFR were set to Adrenocortical carcinoma
Review for gene: EGFR was set to AMBER
Added comment: PMID: 33326033 - Akhavanfard et al 2020 - identified a heterozygous germline variant in EGFR (c.3238 G>A, p.Asp1080Asn) in a 21 year old female with metastatic bilateral Adrenocortical carcinoma (ACC). Then they analyzed germline exome data from 21 children, 32 adolescents and young adults (15-39y), and 60 adult participants with ACC. 3.5% of all 113 ACC cases had at least a highly prioritized VUS germline EGFR variant, compared to only 0.3% in a non-TCGA (The Cancer Genome Atlas) ExAC control group (P < 0.0001). No segregation data.
Sources: Literature
Endocrine neoplasms v1.10 VHL Ivone Leong changed review comment from: This gene was proposed to be added to this panel with Green by Soo-Mi Park (East Anglian Medical Genetics Service).

This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.

This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert Review; to: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service).

This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.

This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert Review
Endocrine neoplasms v1.10 TP53 Ivone Leong Classified gene: TP53 as Amber List (moderate evidence)
Endocrine neoplasms v1.10 TP53 Ivone Leong Gene: tp53 has been classified as Amber List (Moderate Evidence).
Endocrine neoplasms v1.9 PRKAR1A Ivone Leong changed review comment from: This gene was proposed to be added to this panel with Green by Soo-Mi Park (East Anglian Medical Genetics Service).

This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.

This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert Review; to: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service).

This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.

This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert Review
Endocrine neoplasms v1.9 TP53 Ivone Leong gene: TP53 was added
gene: TP53 was added to Endocrine neoplasms. Sources: Expert Review
for-review tags were added to gene: TP53.
Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TP53 were set to Endocrine Cancer; Paragangliomas 1, with or without deafness, 168000; Pheochromocytoma, 171300; Carcinoid tumors, intestinal, 114900; Merkel cell carcinoma, somatic; Paraganglioma and gastric stromal sarcoma, 606864; Cowden syndrome 3, 615106
Review for gene: TP53 was set to AMBER
Added comment: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service).

This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.

This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert Review
Endocrine neoplasms v1.8 VHL Ivone Leong Classified gene: VHL as Amber List (moderate evidence)
Endocrine neoplasms v1.8 VHL Ivone Leong Gene: vhl has been classified as Amber List (Moderate Evidence).
Endocrine neoplasms v1.7 VHL Ivone Leong gene: VHL was added
gene: VHL was added to Endocrine neoplasms. Sources: Expert Review
for-review tags were added to gene: VHL.
Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VHL were set to Endocrine Cancer; Paragangliomas 1, with or without deafness, 168000; Pheochromocytoma, 171300; Carcinoid tumors, intestinal, 114900; Merkel cell carcinoma, somatic; Paraganglioma and gastric stromal sarcoma, 606864; Cowden syndrome 3, 615106
Review for gene: VHL was set to AMBER
Added comment: This gene was proposed to be added to this panel with Green by Soo-Mi Park (East Anglian Medical Genetics Service).

This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.

This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert Review
Endocrine neoplasms v1.6 PRKAR1A Ivone Leong Classified gene: PRKAR1A as Amber List (moderate evidence)
Endocrine neoplasms v1.6 PRKAR1A Ivone Leong Gene: prkar1a has been classified as Amber List (Moderate Evidence).
Endocrine neoplasms v1.5 PRKAR1A Ivone Leong Tag for-review tag was added to gene: PRKAR1A.
Endocrine neoplasms v1.5 PRKAR1A Ivone Leong gene: PRKAR1A was added
gene: PRKAR1A was added to Endocrine neoplasms. Sources: Expert Review
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAR1A were set to Endocrine Cancer
Review for gene: PRKAR1A was set to AMBER
Added comment: This gene was proposed to be added to this panel with Green by Soo-Mi Park (East Anglian Medical Genetics Service).

This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.

This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert Review
Endocrine neoplasms v1.4 Catherine Snow Panel types changed to GMS Rare Disease; GMS signed-off
Panel version has been signed off
Endocrine neoplasms v1.3 Sarah Leigh Panel version has been signed off
Endocrine neoplasms v1.0 RET Ivone Leong changed review comment from: Submitted on behalf of Treena Cranston (Oxford): exons 5,8,10,11,13,14,15 &16 should be covered.; to: Submitted on behalf of Treena Cranston (Oxford): minimally cover exons 5,8,10,11,13,14,15 &16.
Endocrine neoplasms v1.0 Ivone Leong promoted panel to version 1.0
Endocrine neoplasms v0.6 RET Ivone Leong commented on gene: RET: Submitted on behalf of Treena Cranston (Oxford): exons 5,8,10,11,13,14,15 &16 should be covered.
Endocrine neoplasms v0.5 Ivone Leong List of related panels changed from to R217
Panel types changed to GMS Rare Disease Virtual; GMS signed-off
Endocrine neoplasms v0.4 CDKN1B Ivone Leong Marked gene: CDKN1B as ready
Endocrine neoplasms v0.4 CDKN1B Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Endocrine neoplasms v0.4 CDKN1B Ivone Leong Gene: cdkn1b has been classified as Green List (High Evidence).
Endocrine neoplasms v0.4 MEN1 Ivone Leong Marked gene: MEN1 as ready
Endocrine neoplasms v0.4 MEN1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Endocrine neoplasms v0.4 MEN1 Ivone Leong Gene: men1 has been classified as Green List (High Evidence).
Endocrine neoplasms v0.4 RET Ivone Leong Marked gene: RET as ready
Endocrine neoplasms v0.4 RET Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Endocrine neoplasms v0.4 RET Ivone Leong Gene: ret has been classified as Green List (High Evidence).
Endocrine neoplasms v0.4 CDC73 Ivone Leong Marked gene: CDC73 as ready
Endocrine neoplasms v0.4 CDC73 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Endocrine neoplasms v0.4 CDC73 Ivone Leong Gene: cdc73 has been classified as Green List (High Evidence).
Endocrine neoplasms v0.4 AIP Ivone Leong Marked gene: AIP as ready
Endocrine neoplasms v0.4 AIP Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Endocrine neoplasms v0.4 AIP Ivone Leong Gene: aip has been classified as Green List (High Evidence).
Endocrine neoplasms v0.3 RET Ivone Leong gene: RET was added
gene: RET was added to Endocrine neoplasms. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RET were set to MEN2-like spectrum; Multiple Endocrine Neoplasia Type 2: RET Gene Deletion/Duplication; Multiple endocrine neoplasia IIA, 171400; Endocrine Cancer; Multiple Endocrine Neoplasia
Endocrine neoplasms v0.3 MEN1 Ivone Leong gene: MEN1 was added
gene: MEN1 was added to Endocrine neoplasms. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MEN1 were set to Endocrine Cancer; pituitary tumours; Multiple Endocrine Neoplasia Type 1: MEN1 Gene Deletion/Duplication; Parathyroid adenoma, somatic; Multiple endocrine neoplasia 1, 131100; Carcinoid tumor of lung; Angiofibroma, somatic; Adrenal adenoma, somatic; Lipoma, somatic; MEN1-like spectrum; Multiple Endocrine Neoplasia
Endocrine neoplasms v0.3 CDKN1B Ivone Leong gene: CDKN1B was added
gene: CDKN1B was added to Endocrine neoplasms. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDKN1B were set to Endocrine Cancer; Multiple Endocrine Neoplasia; Multiple endocrine neoplasia, type IV, 610755
Endocrine neoplasms v0.3 CDC73 Ivone Leong gene: CDC73 was added
gene: CDC73 was added to Endocrine neoplasms. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDC73 were set to Endocrine Cancer
Endocrine neoplasms v0.3 AIP Ivone Leong gene: AIP was added
gene: AIP was added to Endocrine neoplasms. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AIP were set to Endocrine Cancer; Pituitary adenoma, growth hormone-secreting, 102200; pituitary tumours; Familial Isolated Pituitary Adenomas; Pituitary adenoma, prolactin-secreting, 600634; Pituitary adenoma, ACTH-secreting, 219090
Endocrine neoplasms v0.1 Ivone Leong Panel status changed from internal to public
Endocrine neoplasms v0.0 Ivone Leong Added Panel Endocrine neoplasms
Set panel types to: GMS Rare Disease Virtual