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Gastrointestinal Stromal Tumour v2.0 SDHD Gene migrated from ENSG00000204370 to ENSG00000204370 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 SDHC Gene migrated from ENSG00000143252 to ENSG00000143252 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 SDHB Gene migrated from ENSG00000117118 to ENSG00000117118 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 SDHAF2 Gene migrated from ENSG00000167985 to ENSG00000167985 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 SDHA Gene migrated from ENSG00000073578 to ENSG00000073578 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 PDGFRA Gene migrated from ENSG00000134853 to ENSG00000134853 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 NF1 Gene migrated from ENSG00000196712 to ENSG00000196712 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 KIT Gene migrated from ENSG00000157404 to ENSG00000157404 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.0
Gastrointestinal Stromal Tumour v1.0 Zornitza Stark promoted panel to version 1.0
Gastrointestinal Stromal Tumour v0.17 Zornitza Stark Panel status changed from internal to public
Gastrointestinal Stromal Tumour v0.16 SDHD Zornitza Stark Marked gene: SDHD as ready
Gastrointestinal Stromal Tumour v0.16 SDHD Zornitza Stark Gene: sdhd has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.16 SDHC Zornitza Stark Marked gene: SDHC as ready
Gastrointestinal Stromal Tumour v0.16 SDHC Zornitza Stark Gene: sdhc has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.16 SDHB Zornitza Stark Marked gene: SDHB as ready
Gastrointestinal Stromal Tumour v0.16 SDHB Zornitza Stark Gene: sdhb has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.16 SDHAF2 Zornitza Stark Marked gene: SDHAF2 as ready
Gastrointestinal Stromal Tumour v0.16 SDHAF2 Zornitza Stark Gene: sdhaf2 has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.16 SDHA Zornitza Stark Marked gene: SDHA as ready
Gastrointestinal Stromal Tumour v0.16 SDHA Zornitza Stark Gene: sdha has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.16 PDGFRA Zornitza Stark Marked gene: PDGFRA as ready
Gastrointestinal Stromal Tumour v0.16 PDGFRA Zornitza Stark Gene: pdgfra has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.16 NF1 Zornitza Stark Marked gene: NF1 as ready
Gastrointestinal Stromal Tumour v0.16 NF1 Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.16 KIT Zornitza Stark Marked gene: KIT as ready
Gastrointestinal Stromal Tumour v0.16 KIT Zornitza Stark Gene: kit has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.16 SDHD chirag patel Classified gene: SDHD as Green List (high evidence)
Gastrointestinal Stromal Tumour v0.16 SDHD chirag patel Gene: sdhd has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.15 SDHC chirag patel Classified gene: SDHC as Green List (high evidence)
Gastrointestinal Stromal Tumour v0.15 SDHC chirag patel Gene: sdhc has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.14 SDHB chirag patel Classified gene: SDHB as Green List (high evidence)
Gastrointestinal Stromal Tumour v0.14 SDHB chirag patel Gene: sdhb has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.13 SDHAF2 chirag patel Classified gene: SDHAF2 as Green List (high evidence)
Gastrointestinal Stromal Tumour v0.13 SDHAF2 chirag patel Gene: sdhaf2 has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.12 SDHA chirag patel Classified gene: SDHA as Green List (high evidence)
Gastrointestinal Stromal Tumour v0.12 SDHA chirag patel Gene: sdha has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.11 SDHD chirag patel gene: SDHD was added
gene: SDHD was added to Gastrointestinal Stromal Tumour. 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 Gastrointestinal stromal tumor, MONDO:0011719; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 1, MIM#168000
Review for gene: SDHD was set to GREEN
Added comment: ClinGen definitive. GIST reported in condition.
Sources: Expert list, Expert Review
Gastrointestinal Stromal Tumour v0.10 SDHC chirag patel gene: SDHC was added
gene: SDHC was added to Gastrointestinal Stromal Tumour. 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 Gastrointestinal stromal tumor, MONDO:0011719; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 3, MIM#605373
Review for gene: SDHC was set to GREEN
Added comment: ClinGen definitive. GIST reported in condition.
Sources: Expert list, Expert Review
Gastrointestinal Stromal Tumour v0.9 SDHB chirag patel gene: SDHB was added
gene: SDHB was added to Gastrointestinal Stromal Tumour. 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 Gastrointestinal stromal tumor, MONDO:0011719; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 4, MIM#115310
Review for gene: SDHB was set to GREEN
Added comment: ClinGen definitive. GIST reported in condition.
Sources: Expert list, Expert Review
Gastrointestinal Stromal Tumour v0.8 SDHAF2 chirag patel gene: SDHAF2 was added
gene: SDHAF2 was added to Gastrointestinal Stromal Tumour. 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 Gastrointestinal stromal tumor, MONDO:0011719; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 2, MIM#601650
Review for gene: SDHAF2 was set to GREEN
Added comment: ClinGen definitive. GIST reported in condition.
Sources: Expert list, Expert Review
Gastrointestinal Stromal Tumour v0.7 SDHA chirag patel gene: SDHA was added
gene: SDHA was added to Gastrointestinal Stromal Tumour. 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 Gastrointestinal stromal tumor, MONDO:0011719; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 5, MIM#614165
Review for gene: SDHA was set to GREEN
Added comment: ClinGen definitive. GIST reported in condition.
Sources: Expert list, Expert Review
Gastrointestinal Stromal Tumour v0.6 NF1 chirag patel Classified gene: NF1 as Green List (high evidence)
Gastrointestinal Stromal Tumour v0.6 NF1 chirag patel Gene: nf1 has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.5 PDGFRA chirag patel Classified gene: PDGFRA as Green List (high evidence)
Gastrointestinal Stromal Tumour v0.5 PDGFRA chirag patel Gene: pdgfra has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.4 KIT chirag patel Classified gene: KIT as Green List (high evidence)
Gastrointestinal Stromal Tumour v0.4 KIT chirag patel Gene: kit has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.3 NF1 chirag patel gene: NF1 was added
gene: NF1 was added to Gastrointestinal Stromal Tumour. 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 Gastrointestinal stromal tumor, MONDO:0011719; Neurofibromatosis type 1, MONDO:0018975; Neurofibromatosis, type 1, MIM#162200
Review for gene: NF1 was set to GREEN
Added comment: ClinGen definitive. GIST reported in condition.
Single gene testing may be more appropriate if clinical features of NF1.
Sources: Expert list, Expert Review
Gastrointestinal Stromal Tumour v0.2 PDGFRA chirag patel gene: PDGFRA was added
gene: PDGFRA was added to Gastrointestinal Stromal Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDGFRA were set to Gastrointestinal stromal tumor, MONDO:0011719; Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, MIM#175510
Mode of pathogenicity for gene: PDGFRA 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: PDGFRA was set to GREEN
Added comment: ClinGen definitive. GOF variants.
Sources: Expert list, Expert Review
Gastrointestinal Stromal Tumour v0.1 KIT chirag patel gene: KIT was added
gene: KIT was added to Gastrointestinal Stromal Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIT were set to Gastrointestinal stromal tumor, MONDO:0011719; Gastrointestinal stromal tumor, familial, MIM#606764
Mode of pathogenicity for gene: KIT 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: KIT was set to GREEN
Added comment: ClinGen definitive. GOF variants.
Sources: Expert list, Expert Review
Gastrointestinal Stromal Tumour v0.0 chirag patel Added Panel Gastrointestinal Stromal Tumour
Set panel types to: Cancer Germline