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Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.10 Arina Puzriakova Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.9 DNMT3A Arina Puzriakova Phenotypes for gene: DNMT3A were changed from Heyn-Sproul-Jackson syndrome, OMIM: 618724 to Heyn-Sproul-Jackson syndrome, OMIM:618724
Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.8 DNMT3A Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: DNMT3A.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.8 DNMT3A Arina Puzriakova reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.7 DNMT3A Arina Puzriakova Source NHS GMS was added to DNMT3A.
Source Expert Review Green was added to DNMT3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.6 DNMT3A Sarah Leigh Tag Q1_25_ promote_green tag was added to gene: DNMT3A.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.6 DNMT3A Sarah Leigh edited their review of gene: DNMT3A: Added comment: Four different DNMT3A variants have so far been associated with carotid paragangliomas in a total of ten cases as part of a syndrome. All of the variants are located within the proline-tryptophan-tryptophan-proline (PWWP) domain of DNMT3A (PMID: 29740169; 33182397; 39166703). De novo occurrence of the DNMT3A variant was proven in one case, one variant was inherited from a mother in another case, three were somatic and the inheritance could not be established in five cases (PMID: 29740169; 33182397; 39166703). The DNMT3A variants had a gain of function mechanism, resulting in hypermethylation of polycomb-marked developmental genes and altered chromatin binding specificity (PMID: 39166703).; Changed rating: GREEN
Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.6 DNMT3A Sarah Leigh Publications for gene: DNMT3A were set to 39166703
Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.5 DNMT3A Sarah Leigh Phenotypes for gene: DNMT3A were changed from Heyn-Sproul-Jackson syndrome, OMIM: 618724 to Heyn-Sproul-Jackson syndrome, OMIM: 618724
Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.4 DNMT3A Sarah Leigh Added comment: Comment on phenotypes: The patient reported in PMID: 39166703 had Heyn-Sproul-Jackson syndrome (OMIM: 618724), with recurrent carotid paragangliomas.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.4 DNMT3A Sarah Leigh Phenotypes for gene: DNMT3A were changed from Recurrent carotid paragangliomas to Heyn-Sproul-Jackson syndrome, OMIM: 618724
Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.3 DNMT3A Sarah Leigh Phenotypes for gene: DNMT3A were changed from to Recurrent carotid paragangliomas
Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.2 DNMT3A Sarah Leigh Classified gene: DNMT3A as Amber List (moderate evidence)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.2 DNMT3A Sarah Leigh Gene: dnmt3a has been classified as Amber List (Moderate Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.1 DNMT3A Dmitrijs Rots gene: DNMT3A was added
gene: DNMT3A was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Literature
Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNMT3A were set to 39166703
Penetrance for gene: DNMT3A were set to unknown
Mode of pathogenicity for gene: DNMT3A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: DNMT3A was set to GREEN
Added comment: Over multiple case reports, missense variants in DNMT3A PWWP domain seem to be associated with paragangliomas (PMID:39166703).
Sources: Literature
Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.1 Arina Puzriakova Panel version 3.0 has been signed off on 2024-08-07
Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.0 Arina Puzriakova promoted panel to version 3.0
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 SLC25A11 Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: SLC25A11.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 MDH2 Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: MDH2.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 SLC25A11 Achchuthan Shanmugasundram Tag Q4_23_demote_red was removed from gene: SLC25A11.
Tag Q4_23_NHS_review was removed from gene: SLC25A11.
Tag Q4_23_expert_review was removed from gene: SLC25A11.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 SLC25A11 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreyfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to grey following NHS Genomic Medicine Service approval.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 MDH2 Achchuthan Shanmugasundram Tag Q4_23_demote_red was removed from gene: MDH2.
Tag Q4_23_NHS_review was removed from gene: MDH2.
Tag Q4_23_expert_review was removed from gene: MDH2.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 MDH2 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreyfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to grey following NHS Genomic Medicine Service approval.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 DLST Achchuthan Shanmugasundram Tag Q4_23_demote_red was removed from gene: DLST.
Tag Q4_23_NHS_review was removed from gene: DLST.
Tag Q4_23_expert_review was removed from gene: DLST.
Tag curated_removed tag was added to gene: DLST.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 DLST Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreyfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to grey following NHS Genomic Medicine Service approval.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 DLST Achchuthan Shanmugasundram commented on gene: DLST
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 SLC25A11 Achchuthan Shanmugasundram commented on gene: SLC25A11
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 MDH2 Achchuthan Shanmugasundram commented on gene: MDH2
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.7 DLST Achchuthan Shanmugasundram Source Expert Review Removed was added to DLST.
Rating Changed from Green List (high evidence) to No List (delete)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.7 SLC25A11 Achchuthan Shanmugasundram Source Expert Review Removed was added to SLC25A11.
Rating Changed from Green List (high evidence) to No List (delete)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.7 MDH2 Achchuthan Shanmugasundram Source Expert Review Removed was added to MDH2.
Rating Changed from Green List (high evidence) to No List (delete)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.6 DLST Ivone Leong Tag Q4_23_demote_red tag was added to gene: DLST.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.6 MDH2 Ivone Leong Tag Q4_23_demote_red tag was added to gene: MDH2.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.6 SLC25A11 Ivone Leong Tag Q4_23_demote_red tag was added to gene: SLC25A11.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.6 DLST Ivone Leong commented on gene: DLST: This gene has been tagged for additional expert review due to conflicting reviews. The gene rating will remain Green pending the results of the expert review.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.6 DLST Ivone Leong Tag Q4_23_NHS_review tag was added to gene: DLST.
Tag Q4_23_expert_review tag was added to gene: DLST.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.6 MDH2 Ivone Leong Tag Q4_23_NHS_review tag was added to gene: MDH2.
Tag Q4_23_expert_review tag was added to gene: MDH2.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.6 MDH2 Ivone Leong commented on gene: MDH2: This gene has been tagged for additional expert review due to conflicting reviews. The gene rating will remain Green pending the results of the expert review.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.6 SLC25A11 Ivone Leong commented on gene: SLC25A11: This gene has been tagged for additional expert review due to conflicting reviews. The gene rating will remain Green pending the results of the expert review.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.6 SLC25A11 Ivone Leong Tag Q4_23_NHS_review tag was added to gene: SLC25A11.
Tag Q4_23_expert_review tag was added to gene: SLC25A11.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.6 DLST Ivone Leong Phenotypes for gene: DLST were changed from Paragangliomas 7, OMIM:618475 to Paragangliomas 7, OMIM:618475; Paragangliomas 7, MONDO:0032771
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.5 MDH2 Ivone Leong Phenotypes for gene: MDH2 were changed from PPGL to PPGL; pheochromocytoma-paraganglioma, MONDO:0035540
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.4 SLC25A11 Ivone Leong Phenotypes for gene: SLC25A11 were changed from Paragangliomas 6, OMIM:618464 to Paragangliomas 6, OMIM:618464; Paragangliomas 6, MONDO:0032767
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.2 MDH2 Terri McVeigh reviewed gene: MDH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.2 DLST Terri McVeigh reviewed gene: DLST: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.2 SLC25A11 Terri McVeigh reviewed gene: SLC25A11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.1 Catherine Snow Panel version 2.0 has been signed off on 2022-11-30
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.0 Catherine Snow promoted panel to version 2.0
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.25 SDHA Arina Puzriakova Phenotypes for gene: SDHA were changed from Hereditary Paraganglioma-Pheochromocytoma Syndrome; Leigh syndrome, 256000Mitochondrial respiratory chain complex II deficiency, 252011Cardiomyopathy, dilated, 1GG, 613642Paragangliomas 5, 614165 to Paragangliomas 5, OMIM:614165
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.24 SDHB Arina Puzriakova Phenotypes for gene: SDHB were changed from Paraganglioma and Gastric Stromal Sarcoma; Paragangliomas 4, 115310Pheochromocytoma, 171300Paraganglioma and gastric stromal sarcoma, 606864Cowden syndrome 2, 612359Gastrointestinal stromal tumor, 606764 to Paragangliomas 4, OMIM:115310; Pheochromocytoma, OMIM:171300; Paraganglioma and gastric stromal sarcoma, OMIM:606864
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.23 NF1 Ivone Leong Tag Q2_21_rating was removed from gene: NF1.
Tag Q2_21_phenotype was removed from gene: NF1.
Tag Q2_21_NHS_review was removed from gene: NF1.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.23 EPAS1 Ivone Leong Tag Q2_21_rating was removed from gene: EPAS1.
Tag Q2_21_phenotype was removed from gene: EPAS1.
Tag Q2_21_NHS_review was removed from gene: EPAS1.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.23 NF1 Ivone Leong commented on gene: NF1: Submitted on behalf of NHS GMS "No. Has been discussed previously and agreed this should not be part of this panel. It is a seperate entity"
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.23 EPAS1 Ivone Leong commented on gene: EPAS1: Submitted on behalf of NHS GMS "No - Think the EPAS1 mutations associated with PCC are generally somatic not germline. https://pubmed.ncbi.nlm.nih.gov/33300499/ describes some germline variants but describes them as hypomorphic so not sure its ready to be elevated amber gene"
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.23 NF1 Ivone Leong commented on gene: NF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.23 EPAS1 Ivone Leong commented on gene: EPAS1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.22 NF1 Ivone Leong Source Expert Review Red was added to NF1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.21 SLC25A11 Ivone Leong Tag for-review was removed from gene: SLC25A11.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.21 MDH2 Ivone Leong Tag for-review was removed from gene: MDH2.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.21 DLST Ivone Leong Tag for-review was removed from gene: DLST.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.21 SLC25A11 Ivone Leong commented on gene: SLC25A11: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.21 MDH2 Ivone Leong commented on gene: MDH2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.21 DLST Ivone Leong commented on gene: DLST: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.20 SLC25A11 Ivone Leong Source Expert Review Green was added to SLC25A11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.20 MDH2 Ivone Leong Source Expert Review Green was added to MDH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.20 DLST Ivone Leong Source Expert Review Green was added to DLST.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.19 VHL Ivone Leong Phenotypes for gene: VHL were changed from Pheochromocytoma, OMIM:171300 to Pheochromocytoma, OMIM:171300; von Hippel-Lindau syndrome, OMIM:193300
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.18 VHL Ivone Leong Phenotypes for gene: VHL were changed from von Hippel-Lindau syndrome, 193300Renal cell carcinoma, somatic, 144700Pheochromocytoma, 171300Hemangioblastoma, cerebellar, somaticErythrocytosis, familial, 2, 263400 to Pheochromocytoma, OMIM:171300
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.17 VHL Ivone Leong Publications for gene: VHL were set to
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.16 MAX Arina Puzriakova Phenotypes for gene: MAX were changed from {Pheochromocytoma, susceptibility to}, 171300; Hereditary Paraganglioma-Pheochromocytoma Syndrome; pheochromocytomas (PHEOs), paragangliomas (PGLs) to {Pheochromocytoma, susceptibility to}, OMIM:171300; Hereditary Paraganglioma-Pheochromocytoma Syndrome
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.15 NF1 Ivone Leong Tag Q2_21_rating tag was added to gene: NF1.
Tag Q2_21_NHS_review tag was added to gene: NF1.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.15 EPAS1 Ivone Leong Tag Q2_21_rating tag was added to gene: EPAS1.
Tag Q2_21_NHS_review tag was added to gene: EPAS1.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.15 EPAS1 Ivone Leong Classified gene: EPAS1 as Amber List (moderate evidence)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.15 EPAS1 Ivone Leong Gene: epas1 has been classified as Amber List (Moderate Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.14 EPAS1 Ivone Leong gene: EPAS1 was added
gene: EPAS1 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert list
Q2_21_phenotype tags were added to gene: EPAS1.
Mode of inheritance for gene: EPAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EPAS1 were set to 22931260; 23418310; 33300499
Phenotypes for gene: EPAS1 were set to Erythrocytosis, familial, 4, OMIM:611783
Review for gene: EPAS1 was set to AMBER
Added comment: This gene was suggested to be added and given a Green rating by Ruth Casey (Cambridge University Hospital). No other evidence was provided.

This gene is associated with a phenotype in OMIM. It has been reported as somatic gain of function variants in patients who present with PPGL and sporadic tumours (PMID: 22931260, 23418310).

PMID: 33300499 looked at EPAS1 germline variants in patients who has PPGL. Half of them have germline variants in EPAS1 and a known PPGL gene, other half has just EPAS1 variants. There are no details about whether these people had a family history of PPGL.
Sources: Expert list
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.13 NF1 Ivone Leong Classified gene: NF1 as Amber List (moderate evidence)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.13 NF1 Ivone Leong Gene: nf1 has been classified as Amber List (Moderate Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.12 NF1 Ivone Leong gene: NF1 was added
gene: NF1 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert list
Q2_21_phenotype tags were added to gene: NF1.
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NF1 were set to 22429592; 16735498
Phenotypes for gene: NF1 were set to NF1
Review for gene: NF1 was set to GREEN
Added comment: This gene was suggested to be added and given a Green rating by Ruth Casey (Cambridge University Hospital).

This gene is Green on the Inherited phaeochromocytoma and paraganglioma (Version 1.6). This gene should be reconsidered for inclusion in this panel by the GMS specialist group.
Sources: Expert list
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.11 DLST Ivone Leong Classified gene: DLST as Amber List (moderate evidence)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.11 DLST Ivone Leong Gene: dlst has been classified as Amber List (Moderate Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.10 DLST Ivone Leong gene: DLST was added
gene: DLST was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review
for-review tags were added to gene: DLST.
Mode of inheritance for gene: DLST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DLST were set to 30929736; 33180916
Phenotypes for gene: DLST were set to Paragangliomas 7, OMIM:618475
Review for gene: DLST was set to GREEN
Added comment: This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. Therefore, this gene should be rated Green at the next review.

This gene was suggested to be added and given a Green rating by Ruth Casey (Cambridge University Hospital). Sources: Expert Review
Sources: Expert Review
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.9 SLC25A11 Ivone Leong Classified gene: SLC25A11 as Amber List (moderate evidence)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.9 SLC25A11 Ivone Leong Gene: slc25a11 has been classified as Amber List (Moderate Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.8 SLC25A11 Ivone Leong gene: SLC25A11 was added
gene: SLC25A11 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review
for-review tags were added to gene: SLC25A11.
Mode of inheritance for gene: SLC25A11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC25A11 were set to 29431636
Phenotypes for gene: SLC25A11 were set to Paragangliomas 6, OMIM:618464
Review for gene: SLC25A11 was set to GREEN
Added comment: This gene is associated with a relevant phenotype in OMIM but not on Gene2Phenotype. There are >3 unrelated cases and therefore, there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.

This gene was suggested to be added and given a Green rating by Ruth Casey (Cambridge University Hospital).
Sources: Expert Review
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.7 MDH2 Ivone Leong Classified gene: MDH2 as Amber List (moderate evidence)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.7 MDH2 Ivone Leong Gene: mdh2 has been classified as Amber List (Moderate Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.6 MDH2 Ivone Leong gene: MDH2 was added
gene: MDH2 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review
for-review tags were added to gene: MDH2.
Mode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDH2 were set to 30008476; 25766404
Phenotypes for gene: MDH2 were set to PPGL
Review for gene: MDH2 was set to GREEN
Added comment: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 cases and therefore, there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.

This gene was suggested to be added and given a Green rating by Ruth Casey (Cambridge University Hospital).
Sources: Expert Review
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.5 Catherine Snow Panel version has been signed off
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.4 Catherine Snow Panel types changed to GMS Rare Disease; GMS signed-off
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.3 Sarah Leigh Panel version has been signed off
Inherited phaeochromocytoma and paraganglioma excluding NF1 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.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.0 Ivone Leong promoted panel to version 1.0
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.7 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.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.6 Ivone Leong List of related panels changed from to R223
Panel types changed to GMS Rare Disease Virtual; GMS signed-off
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 PRKAR1A Ivone Leong Marked gene: PRKAR1A as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 PRKAR1A Ivone Leong Gene: prkar1a has been classified as Amber List (Moderate Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 PRKAR1A Ivone Leong reviewed gene: PRKAR1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 MEN1 Ivone Leong Marked gene: MEN1 as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 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.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 MEN1 Ivone Leong Gene: men1 has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 RET Ivone Leong Marked gene: RET as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 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.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 RET Ivone Leong Gene: ret has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHA Ivone Leong Marked gene: SDHA as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHA 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.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHA Ivone Leong Gene: sdha has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHAF2 Ivone Leong Marked gene: SDHAF2 as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHAF2 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.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHAF2 Ivone Leong Gene: sdhaf2 has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHB Ivone Leong Marked gene: SDHB as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHB 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.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHB Ivone Leong Gene: sdhb has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHC Ivone Leong Marked gene: SDHC as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHC 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.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHC Ivone Leong Gene: sdhc has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHD Ivone Leong Marked gene: SDHD as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHD 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.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHD Ivone Leong Gene: sdhd has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 TMEM127 Ivone Leong Marked gene: TMEM127 as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 TMEM127 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.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 TMEM127 Ivone Leong Gene: tmem127 has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 VHL Ivone Leong Marked gene: VHL as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 VHL 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.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 VHL Ivone Leong Gene: vhl has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 MAX Ivone Leong Marked gene: MAX as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 MAX 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.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 MAX Ivone Leong Gene: max has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 FH Ivone Leong Marked gene: FH as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 FH 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.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 FH Ivone Leong Gene: fh has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 VHL Ivone Leong gene: VHL was added
gene: VHL was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome, 193300Renal cell carcinoma, somatic, 144700Pheochromocytoma, 171300Hemangioblastoma, cerebellar, somaticErythrocytosis, familial, 2, 263400
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 TMEM127 Ivone Leong gene: TMEM127 was added
gene: TMEM127 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMEM127 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM127 were set to {Pheochromocytoma, susceptibility to}, 171300
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 SDHD Ivone Leong gene: SDHD was added
gene: SDHD was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: SDHD were set to Hereditary Paraganglioma-Pheochromocytoma Syndrome; Paragangliomas 1, with or without deafness, 168000Pheochromocytoma, 171300Carcinoid tumors, intestinal, 114900Merkel cell carcinoma, somaticParaganglioma and gastric stromal sarcoma, 606864Cowden syndrome 3, 615106
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 SDHC Ivone Leong gene: SDHC was added
gene: SDHC was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHC were set to Hereditary Paraganglioma-Pheochromocytoma Syndrome; Paragangliomas 3, 605373Paraganglioma and gastric stromal sarcoma, 606864Gastrointestinal stromal tumor, 606764
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 SDHB Ivone Leong gene: SDHB was added
gene: SDHB was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHB were set to Paraganglioma and Gastric Stromal Sarcoma; Paragangliomas 4, 115310Pheochromocytoma, 171300Paraganglioma and gastric stromal sarcoma, 606864Cowden syndrome 2, 612359Gastrointestinal stromal tumor, 606764
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 SDHAF2 Ivone Leong gene: SDHAF2 was added
gene: SDHAF2 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SDHAF2 were set to Paragangliomas 2, 601650; Hereditary Paraganglioma-Pheochromocytoma Syndrome
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 SDHA Ivone Leong gene: SDHA was added
gene: SDHA was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHA were set to Hereditary Paraganglioma-Pheochromocytoma Syndrome; Leigh syndrome, 256000Mitochondrial respiratory chain complex II deficiency, 252011Cardiomyopathy, dilated, 1GG, 613642Paragangliomas 5, 614165
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 RET Ivone Leong gene: RET was added
gene: RET was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. 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 Multiple endocrine neoplasia IIA, 171400Medullary thyroid carcinoma, 155240Multiple endocrine neoplasia IIB, 162300Central hypoventilation syndrome, congenital, 209880Pheochromocytoma, 171300Renal agenesis, 191830{Hirschsprung disease, susceptibility to, 1}, 142623; Multiple Endocrine Neoplasia
Mode of pathogenicity for gene: RET was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 PRKAR1A Ivone Leong gene: PRKAR1A was added
gene: PRKAR1A was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAR1A were set to Endocrine Cancer; Carney complex
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 MEN1 Ivone Leong gene: MEN1 was added
gene: MEN1 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. 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 Multiple endocrine neoplasia type 1 (MEN1); Multiple Endocrine Neoplasia
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 MAX Ivone Leong gene: MAX was added
gene: MAX was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAX were set to PubMed: 21685915; 22429592
Phenotypes for gene: MAX were set to {Pheochromocytoma, susceptibility to}, 171300; Hereditary Paraganglioma-Pheochromocytoma Syndrome; pheochromocytomas (PHEOs), paragangliomas (PGLs)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 FH Ivone Leong gene: FH was added
gene: FH was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FH were set to 23707781; 24334767
Phenotypes for gene: FH were set to PCC/PGL; HLRCC
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.2 Ivone Leong Panel status changed from internal to public
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.1 Ivone Leong Panel name changed from Inherited phaeochromocytoma and paraganglioma – excluding NF1 to Inherited phaeochromocytoma and paraganglioma excluding NF1
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.0 Ivone Leong Added Panel Inherited phaeochromocytoma and paraganglioma – excluding NF1
Set panel types to: GMS Rare Disease Virtual