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Paraganglioma_phaeochromocytoma v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Paraganglioma_phaeochromocytoma v1.0 Zornitza Stark promoted panel to version 1.0
Paraganglioma_phaeochromocytoma v0.33 Zornitza Stark Panel status changed from internal to public
Paraganglioma_phaeochromocytoma v0.32 SLC25A11 Zornitza Stark Marked gene: SLC25A11 as ready
Paraganglioma_phaeochromocytoma v0.32 SLC25A11 Zornitza Stark Gene: slc25a11 has been classified as Red List (Low Evidence).
Paraganglioma_phaeochromocytoma v0.32 PRKAR1A Zornitza Stark Marked gene: PRKAR1A as ready
Paraganglioma_phaeochromocytoma v0.32 PRKAR1A Zornitza Stark Gene: prkar1a has been classified as Red List (Low Evidence).
Paraganglioma_phaeochromocytoma v0.32 MDH2 Zornitza Stark Marked gene: MDH2 as ready
Paraganglioma_phaeochromocytoma v0.32 MDH2 Zornitza Stark Gene: mdh2 has been classified as Red List (Low Evidence).
Paraganglioma_phaeochromocytoma v0.32 MDH2 Zornitza Stark Publications for gene: MDH2 were set to PMID: 25766404, 30008476
Paraganglioma_phaeochromocytoma v0.31 EPAS1 Zornitza Stark Marked gene: EPAS1 as ready
Paraganglioma_phaeochromocytoma v0.31 EPAS1 Zornitza Stark Gene: epas1 has been classified as Red List (Low Evidence).
Paraganglioma_phaeochromocytoma v0.31 EPAS1 Zornitza Stark Publications for gene: EPAS1 were set to PMID: 22931260, 23418310, 33300499
Paraganglioma_phaeochromocytoma v0.30 EGLN1 Zornitza Stark Marked gene: EGLN1 as ready
Paraganglioma_phaeochromocytoma v0.30 EGLN1 Zornitza Stark Gene: egln1 has been classified as Red List (Low Evidence).
Paraganglioma_phaeochromocytoma v0.30 DLST Zornitza Stark Marked gene: DLST as ready
Paraganglioma_phaeochromocytoma v0.30 DLST Zornitza Stark Gene: dlst has been classified as Red List (Low Evidence).
Paraganglioma_phaeochromocytoma v0.30 VHL Zornitza Stark Marked gene: VHL as ready
Paraganglioma_phaeochromocytoma v0.30 VHL Zornitza Stark Gene: vhl has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 TMEM127 Zornitza Stark Marked gene: TMEM127 as ready
Paraganglioma_phaeochromocytoma v0.30 TMEM127 Zornitza Stark Gene: tmem127 has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 SDHD Zornitza Stark Marked gene: SDHD as ready
Paraganglioma_phaeochromocytoma v0.30 SDHD Zornitza Stark Gene: sdhd has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 SDHC Zornitza Stark Marked gene: SDHC as ready
Paraganglioma_phaeochromocytoma v0.30 SDHC Zornitza Stark Gene: sdhc has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 SDHB Zornitza Stark Marked gene: SDHB as ready
Paraganglioma_phaeochromocytoma v0.30 SDHB Zornitza Stark Gene: sdhb has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 SDHAF2 Zornitza Stark Marked gene: SDHAF2 as ready
Paraganglioma_phaeochromocytoma v0.30 SDHAF2 Zornitza Stark Gene: sdhaf2 has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 SDHA Zornitza Stark Marked gene: SDHA as ready
Paraganglioma_phaeochromocytoma v0.30 SDHA Zornitza Stark Gene: sdha has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 RET Zornitza Stark Marked gene: RET as ready
Paraganglioma_phaeochromocytoma v0.30 RET Zornitza Stark Gene: ret has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 NF1 Zornitza Stark Marked gene: NF1 as ready
Paraganglioma_phaeochromocytoma v0.30 NF1 Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 MEN1 Zornitza Stark Marked gene: MEN1 as ready
Paraganglioma_phaeochromocytoma v0.30 MEN1 Zornitza Stark Gene: men1 has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 MAX Zornitza Stark Marked gene: MAX as ready
Paraganglioma_phaeochromocytoma v0.30 MAX Zornitza Stark Gene: max has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 FH Zornitza Stark Marked gene: FH as ready
Paraganglioma_phaeochromocytoma v0.30 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 EGLN1 Chirag Patel gene: EGLN1 was added
gene: EGLN1 was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Literature,Expert Review
Mode of inheritance for gene: EGLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EGLN1 were set to PMID: 19092153, 36013579
Phenotypes for gene: EGLN1 were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Pheochromocytoma/paraganglioma, susceptibility to, no MIM#; Erythrocytosis, familial, 3, MIM#609820
Review for gene: EGLN1 was set to RED
Added comment: PMID: 19092153
1 patient with erythrocytosis and recurrent paraganglioma with a novel de novo germline EGLN1 gene (PHD2) variant (H374R). There was loss of heterozygosity of PHD2 in the tumour. Wild-type PHD2 caused the dose-related suppression of HIF-α–mediated induction of the reporter gene, whereas the response to the H374R PHD2 mutant was impaired.

PMID: 36013579
1 patient with metastatic pheochromocytoma and chronic myeloid leukaemia (CML) without polycythaemia, and a novel germline EGLN1 gene variant (c.153G>A, p.W51*) inherited from unaffected father. The patient had lower expression of PHD2 and higher levels of HIF2α compared to the healthy adrenal tissues, confirming that PHD2 down-regulation results in HIF2α stabilization.
Sources: Expert list, Literature, Expert Review
Paraganglioma_phaeochromocytoma v0.29 EPAS1 Chirag Patel gene: EPAS1 was added
gene: EPAS1 was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review,Literature
Mode of inheritance for gene: EPAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EPAS1 were set to PMID: 22931260, 23418310, 33300499
Phenotypes for gene: EPAS1 were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Pheochromocytoma/paraganglioma, susceptibility to, no MIM#; Erythrocytosis, familial, 4, MIM#611783
Review for gene: EPAS1 was set to RED
Added comment: PMID: 22931260
2 somatic gain-of-function variants in EPAS1 gene encoding hypoxia-inducible factor 2α (HIF2A) in two patients (1 x paraganglioma, 1 x paraganglioma + somatostatinoma). Both patients had polycythemia (congenital erythrocytosis). The two variants were associated with increased HIF-2α activity and increased protein half-life.

PMID: 23418310
7 patients with somatic variants in EPAS1 gene (4 x multiple PGLs, 3 x single sporadic PCC/PGL). Gene expression analysis of EPAS1-mutated tumours revealed similar mRNA EPAS1 levels to those found in SDH-gene- and VHL-mutated cases and a significant up-regulation of two hypoxia-induced genes (PCSK6 and GNA14). Multiplex-PCR screening for small rearrangements detected a specific EPAS1 gain in another EPAS1-mutated tumour and in 3 non-EPAS1-mutated cases.

PMID: 33300499
6 germline missense variants in EPAS1 gene in patients with PPGL (Arg247Ser, Phe374Tyr, His194Arg, Pro785Thr, Ile789Val, Thr766Pro). In transient transfection studies, EPAS1/HIF-2α Arg247Ser, Phe374Tyr and Pro785Thr were all stable in normoxia. In co-immunoprecipitation assays, only the Arg247Ser variant showed diminished interaction with pVHL. A direct interaction between HIF-2α Arg247 and pVHL was confirmed in structural models. Transactivation was assessed by means of a HRE-containing reporter gene in transiently transfected cells, and significantly higher reporter activity was only observed with EPAS1/HIF-2α Phe374Tyr and Pro785Thr. In conclusion, three germline EPAS1 variants (c.739C>A (p.Arg247Ser), c.1121T>A (p.Phe374Tyr) and c.2353C>A (p.Pro785Thr)) all have some functional features in common with somatic activating mutations. Their findings suggest that these three germline variants are hypermorphic alleles that may act as modifiers to the expression of PPGLs.
Sources: Expert list, Expert Review, Literature
Paraganglioma_phaeochromocytoma v0.28 MDH2 Chirag Patel gene: MDH2 was added
gene: MDH2 was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review,Literature
Mode of inheritance for gene: MDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MDH2 were set to PMID: 25766404, 30008476
Phenotypes for gene: MDH2 were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Pheochromocytoma/paraganglioma, susceptibility to, no MIM#; Developmental and epileptic encephalopathy 51, MIM#617339
Review for gene: MDH2 was set to RED
Added comment: PMID: 25766404
WES of tumour in 1 patient with multiple malignant paragangliomas identified a germline splice variant in MDH2 (c.429+1G>T)(variant confirmed in blood). Sanger sequencing of the 4 available primary tumours from the patient revealed loss of the MDH2 wild-type allele in two tumours, indicating loss of heterozygosity. MDH2 mRNA expression analysis revealed 6-14 fold lower levels of MDH2 expression in the four tumors carrying the variant compared with control patients. Substantially lower levels of MDH2 protein were detected in the MDH2-related tumours compared with control patients. Knockdown (KD) of MDH2 in HeLa cells by shRNA triggered the accumulation of both malate and fumarate, which was reversed by transient introduction of WT MDH2 cDNA. Segregation testing found the variant in 2 out of 5 asymptomatic relatives. MDH2 mRNA and protein expression in blood cells were statistically significantly lower in the two carriers compared with control patients. Subsequent clinical testing detected high levels of normetanephrine for one of the carriers, thus confirming the presence of the disease.

PMID: 30008476
Sequencing of MDH2 in 830 patients with PPGLs (negative for the main PPGL driver genes), identified 5 germline variants with potential involvement in pathogenicity (3 x missense, 1 x in-frame deletion, 1 x splice-site). None of the variants was associated with an altered MDH2 localization, or mitochondrial quantity and morphology. LOH was not detected in any of the tumours carrying the missense variants, but was seen in the patient with the inframe deletion.
Sources: Expert list, Expert Review, Literature
Paraganglioma_phaeochromocytoma v0.27 PRKAR1A Chirag Patel gene: PRKAR1A was added
gene: PRKAR1A was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review,Literature
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAR1A were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Carney complex, type 1, MIM#160980
Review for gene: PRKAR1A was set to RED
Added comment: ClinGen definitive. BUT paragangliomas and phaeochromocytomas not classically reported in condition.
Sources: Expert list, Expert Review, Literature
Paraganglioma_phaeochromocytoma v0.26 SLC25A11 Chirag Patel gene: SLC25A11 was added
gene: SLC25A11 was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review,Literature
Mode of inheritance for gene: SLC25A11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC25A11 were set to PMID: 29431636
Phenotypes for gene: SLC25A11 were set to Paragangliomas 6, MONDO:0032767; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 6, MIM#618464
Review for gene: SLC25A11 was set to RED
Added comment: 7 patients with paraganglioma with germline variants in the SLC25A11 gene. The variants were missense, splice site, frameshift, and silent change. The variants were not found in dbSNP or ExAC databases. The missense variants affected highly conserved residues in the signature protein sequence or alpha matrix helix. The variants were associated with loss of heterozygosity, suggesting that SLC25A11 acts as a tumour suppressor gene. Immunohistochemical studies on the tumour tissue showed absence of the SLC25A11 protein and hypermethylation of DNA and histones compared to controls. Pseudohypoxic and hypermethylator phenotypes comparable with those described in SDHx- and FH-related tumours were observed both in tumours with mutated SLC25A11 and in Slc25a11Δ/Δ immortalized mouse chromaffin knockout cells generated by CRISPR-Cas9 technology.
Sources: Expert list, Expert Review, Literature
Paraganglioma_phaeochromocytoma v0.25 DLST Chirag Patel gene: DLST was added
gene: DLST was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review,Literature
Mode of inheritance for gene: DLST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLST were set to PMID: 30929736, 33180916
Phenotypes for gene: DLST were set to Paragangliomas 7, MONDO:0032771; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 7, MIM#618475
Review for gene: DLST was set to RED
Added comment: PMID: 30929736
4 unrelated patients with pheochromocytomas and paragangliomas with the same germline heterozygous missense variant in DLST gene (G374E). Analysis of tumour tissue available from 3 of the patients showed loss of heterozygosity (LOH) for DLST due to uniparental disomy (UPD) of the paternal chromosome. None of the patients had a family history of the disorder, although 3 probands had asymptomatic family members who carried the mutation, consistent with incomplete penetrance. Knockdown of the DLST gene in human H838 cells resulted in a significant block in carbon flow in the tricarboxylic acid (TCA) cycle, which was rescued by wildtype DLST, but not by the G374E mutant. Many PPGL genes encode proteins involved in the tricarboxylic acid (TCA) cycle. In vitro functional expression studies showed that the G374E mutant had compromised catalytic activity compared to wildtype, resulting in a high alpha-KG/fumarate ratio and accumulation of the oncometabolite 2-hydroxyglutaric acid (2HG), particularly the L-2HG enantiomer. Analysis of patient tumours showed strong immunostaining for DLST as well as a hypermethylated phenotype, categorized in the non-CIMP (CpG island methylator phenotype) cluster, and a pseudohypoxic state with increased expression of HIF3A. The findings indicated that DLST can act as a tumour suppression gene. Heterozygous missense variants in DLST (R231Q, D304N, and Y422C) were found in 3 additional probands, but in vitro functional studies of these 3 other missense variants indicated that they behaved similar to wildtype DLST in the assay used. None of the patients besides those with the G374E variant showed LOH in tumour tissue.

PMID: 30929736
2 unrelated patients with pheochromocytomas and paragangliomas with 2 different germline heterozygous missense variants in DLST gene (Pro384Leu, Gly374Glu). Tumour testing in 1 patient identified a second somatic missense variant in DLST (Thr383Ala). They showed the p.(Pro384Leu) variant, located in the catalytic site of DLST, leads to a dramatic but not complete loss of catalytic activity.
Sources: Expert list, Expert Review, Literature
Paraganglioma_phaeochromocytoma v0.24 FH Chirag Patel Classified gene: FH as Green List (high evidence)
Paraganglioma_phaeochromocytoma v0.24 FH Chirag Patel Gene: fh has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.23 MEN1 Chirag Patel Classified gene: MEN1 as Green List (high evidence)
Paraganglioma_phaeochromocytoma v0.23 MEN1 Chirag Patel Gene: men1 has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.22 NF1 Chirag Patel Classified gene: NF1 as Green List (high evidence)
Paraganglioma_phaeochromocytoma v0.22 NF1 Chirag Patel Gene: nf1 has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.21 RET Chirag Patel Classified gene: RET as Green List (high evidence)
Paraganglioma_phaeochromocytoma v0.21 RET Chirag Patel Gene: ret has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.20 RET Chirag Patel gene: RET was added
gene: RET was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RET were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Multiple endocrine neoplasia type 2A, MONDO:0008234; Multiple endocrine neoplasia type 2B, MONDO:0008082; Multiple endocrine neoplasia, type 2A, MIM#171400; Multiple endocrine neoplasia, type 2B, MIM#162300; Pheochromocytoma, MIM#171300; Medullary thyroid carcinoma, MIM#155240; Pheochromocytoma, susceptibility to, MIM#171300
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
Review for gene: RET was set to GREEN
Added comment: ClinGen definitive. Paragangliomas and phaeochromocytomas reported in condition. GOF variants.
Sources: Expert list, Expert Review
Paraganglioma_phaeochromocytoma v0.19 NF1 Chirag Patel gene: NF1 was added
gene: NF1 was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF1 were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Neurofibromatosis type 1, MONDO:0018975; Neurofibromatosis, type 1, MIM#162200
Review for gene: NF1 was set to GREEN
Added comment: ClinGen definitive. Paragangliomas and phaeochromocytomas reported in condition.

Single gene testing may be more appropriate if clinical features of NF1.
Sources: Expert list, Expert Review
Paraganglioma_phaeochromocytoma v0.18 MEN1 Chirag Patel gene: MEN1 was added
gene: MEN1 was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MEN1 were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Multiple endocrine neoplasia type 1, MONDO:0007540; Multiple endocrine neoplasia, type 1, MIM#131100
Review for gene: MEN1 was set to GREEN
Added comment: ClinGen definitive. Paragangliomas and phaeochromocytomas reported in condition.
Sources: Expert list, Expert Review
Paraganglioma_phaeochromocytoma v0.17 FH Chirag Patel gene: FH was added
gene: FH was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review
Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FH were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888; Leiomyomatosis and renal cell cancer, MIM#150800
Review for gene: FH was set to GREEN
Added comment: ClinGen definitive. Paragangliomas and phaeochromocytomas reported in condition.
Sources: Expert list, Expert Review
Paraganglioma_phaeochromocytoma v0.16 MAX Chirag Patel Classified gene: MAX as Green List (high evidence)
Paraganglioma_phaeochromocytoma v0.16 MAX Chirag Patel Gene: max has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.15 SDHA Chirag Patel Classified gene: SDHA as Green List (high evidence)
Paraganglioma_phaeochromocytoma v0.15 SDHA Chirag Patel Gene: sdha has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.14 SDHAF2 Chirag Patel Classified gene: SDHAF2 as Green List (high evidence)
Paraganglioma_phaeochromocytoma v0.14 SDHAF2 Chirag Patel Gene: sdhaf2 has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.13 SDHB Chirag Patel Classified gene: SDHB as Green List (high evidence)
Paraganglioma_phaeochromocytoma v0.13 SDHB Chirag Patel Gene: sdhb has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.12 SDHC Chirag Patel Classified gene: SDHC as Green List (high evidence)
Paraganglioma_phaeochromocytoma v0.12 SDHC Chirag Patel Gene: sdhc has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.11 SDHD Chirag Patel Classified gene: SDHD as Green List (high evidence)
Paraganglioma_phaeochromocytoma v0.11 SDHD Chirag Patel Gene: sdhd has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.10 TMEM127 Chirag Patel Classified gene: TMEM127 as Green List (high evidence)
Paraganglioma_phaeochromocytoma v0.10 TMEM127 Chirag Patel Gene: tmem127 has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.9 VHL Chirag Patel Classified gene: VHL as Green List (high evidence)
Paraganglioma_phaeochromocytoma v0.9 VHL Chirag Patel Gene: vhl has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.8 VHL Chirag Patel gene: VHL was added
gene: VHL was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review
Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VHL were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Von Hippel-Lindau disease, MONDO:0008667; von Hippel-Lindau syndrome, MIM#193300; Pheochromocytoma, susceptibility to, MIM#171300
Review for gene: VHL was set to GREEN
Added comment: ClinGen definitive. Paragangliomas and phaeochromocytomas reported in condition.
Sources: Expert list, Expert Review
Paraganglioma_phaeochromocytoma v0.7 TMEM127 Chirag Patel gene: TMEM127 was added
gene: TMEM127 was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review
Mode of inheritance for gene: TMEM127 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM127 were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma, susceptibility to, MIM#171300
Review for gene: TMEM127 was set to GREEN
Added comment: ClinGen definitive.
Sources: Expert list, Expert Review
Paraganglioma_phaeochromocytoma v0.6 SDHD Chirag Patel gene: SDHD was added
gene: SDHD was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review
Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHD were set to Paragangliomas 1, MONDO:0008192; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 1, MIM#168000
Review for gene: SDHD was set to GREEN
Added comment: ClinGen definitive.
Sources: Expert list, Expert Review
Paraganglioma_phaeochromocytoma v0.5 SDHC Chirag Patel gene: SDHC was added
gene: SDHC was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review
Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHC were set to Paragangliomas 3, MONDO:0011544; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 3, MIM#605373
Review for gene: SDHC was set to GREEN
Added comment: ClinGen definitive.
Sources: Expert list, Expert Review
Paraganglioma_phaeochromocytoma v0.4 SDHB Chirag Patel gene: SDHB was added
gene: SDHB was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review
Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHB were set to Paragangliomas 4, MONDO:0007273; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 4, MIM#115310
Review for gene: SDHB was set to GREEN
Added comment: ClinGen definitive.
Sources: Expert list, Expert Review
Paraganglioma_phaeochromocytoma v0.3 SDHAF2 Chirag Patel gene: SDHAF2 was added
gene: SDHAF2 was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review
Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHAF2 were set to Paragangliomas 2, MONDO:0011121; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 2, MIM#601650
Review for gene: SDHAF2 was set to GREEN
Added comment: ClinGen definitive.
Sources: Expert list, Expert Review
Paraganglioma_phaeochromocytoma v0.2 SDHA Chirag Patel gene: SDHA was added
gene: SDHA was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review
Mode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHA were set to Paragangliomas 5, MONDO:0013602; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 5, MIM#614165
Review for gene: SDHA was set to GREEN
Added comment: ClinGen definitive.
Sources: Expert list, Expert Review
Paraganglioma_phaeochromocytoma v0.1 MAX Chirag Patel gene: MAX was added
gene: MAX was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review
Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAX were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma, susceptibility to, MIM#171300
Review for gene: MAX was set to GREEN
Added comment: ClinGen definitive.
Sources: Expert list, Expert Review
Paraganglioma_phaeochromocytoma v0.0 Chirag Patel Added Panel Paraganglioma_phaeochromocytoma
Set panel types to: Cancer Germline