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| 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. |
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| 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 | 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 v1.22 | NF1 |
Ivone Leong Source Expert Review Red was added to NF1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| 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. |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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) |
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| 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 |
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| 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 |
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