| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Parathyroid Tumour v1.2 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v1.1 | Chirag Patel Panel name changed from Parathyroid Cancer to Parathyroid Tumour | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v1.0 | Zornitza Stark promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.14 | Zornitza Stark Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.13 | Chirag Patel Panel name changed from Parathyroid Neoplasm to Parathyroid Cancer | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.12 | RET | Zornitza Stark Marked gene: RET as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.12 | RET | Zornitza Stark Gene: ret has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.12 | MEN1 | Zornitza Stark Marked gene: MEN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.12 | MEN1 | Zornitza Stark Gene: men1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.12 | GCM2 | Zornitza Stark Marked gene: GCM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.12 | GCM2 | Zornitza Stark Gene: gcm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.12 | CDKN1B | Zornitza Stark Marked gene: CDKN1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.12 | CDKN1B | Zornitza Stark Gene: cdkn1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.12 | CDC73 | Zornitza Stark Marked gene: CDC73 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.12 | CDC73 | Zornitza Stark Gene: cdc73 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.12 | CASR | Zornitza Stark Marked gene: CASR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.12 | CASR | Zornitza Stark Gene: casr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.12 | CASR | Chirag Patel Classified gene: CASR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.12 | CASR | Chirag Patel Gene: casr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.11 | CDC73 | Chirag Patel Classified gene: CDC73 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.11 | CDC73 | Chirag Patel Gene: cdc73 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.10 | CDKN1B | Chirag Patel Classified gene: CDKN1B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.10 | CDKN1B | Chirag Patel Gene: cdkn1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.9 | MEN1 | Chirag Patel Classified gene: MEN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.9 | MEN1 | Chirag Patel Gene: men1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.8 | RET | Chirag Patel Classified gene: RET as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.8 | RET | Chirag Patel Gene: ret has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.7 | GCM2 | Chirag Patel Classified gene: GCM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.7 | GCM2 | Chirag Patel Gene: gcm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parathyroid Tumour v0.6 | CASR |
Chirag Patel gene: CASR was added gene: CASR was added to Parathyroid Neoplasm. Sources: Expert list,Expert Review Mode of inheritance for gene: CASR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CASR were set to Tumor of parathyroid gland, MONDO:0021360; Familial hypocalciuric hypercalcemia 1, MONDO:0007791; Hypocalciuric hypercalcemia, type I, MIM#145980; Hypocalcemia, autosomal dominant, MIM#601198 Review for gene: CASR was set to GREEN Added comment: ClinGen definitive. Parathyroid neoplasm reported in condition. Sources: Expert list, Expert Review |
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| Parathyroid Tumour v0.5 | CDC73 |
Chirag Patel gene: CDC73 was added gene: CDC73 was added to Parathyroid Neoplasm. Sources: Expert list,Expert Review Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDC73 were set to Tumor of parathyroid gland, MONDO:0021360; Hyperparathyroidism 2 with jaw tumors, MONDO:0007768; Hyperparathyroidism-jaw tumor syndrome, MIM#145001; Hyperparathyroidism, familial primary, MIM#145000 Review for gene: CDC73 was set to GREEN Added comment: ClinGen definitive. Parathyroid neoplasm reported in condition. Sources: Expert list, Expert Review |
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| Parathyroid Tumour v0.4 | GCM2 |
Chirag Patel changed review comment from: Established gene-disease association. Numerous families reported. GOF variants. Sources: Expert list, Expert Review, Literature; to: Established gene-disease association. Numerous families reported. Parathyroid neoplasm reported in condition. GOF variants. Sources: Expert list, Expert Review, Literature |
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| Parathyroid Tumour v0.4 | CDKN1B |
Chirag Patel gene: CDKN1B was added gene: CDKN1B was added to Parathyroid Neoplasm. Sources: Expert list,Expert Review Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDKN1B were set to Tumor of parathyroid gland, MONDO:0021360; Multiple endocrine neoplasia type 4, MONDO:0012552; Multiple endocrine neoplasia, type 4, MIM#610755 Review for gene: CDKN1B was set to GREEN Added comment: ClinGen definitive. Sources: Expert list, Expert Review |
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| Parathyroid Tumour v0.3 | MEN1 |
Chirag Patel gene: MEN1 was added gene: MEN1 was added to Parathyroid Neoplasm. 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 Tumor of parathyroid gland, MONDO:0021360; 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. Sources: Expert list, Expert Review |
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| Parathyroid Tumour v0.2 | RET |
Chirag Patel gene: RET was added gene: RET was added to Parathyroid Neoplasm. 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 Tumor of parathyroid gland, MONDO:0021360; 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. GOF variants. Sources: Expert list, Expert Review |
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| Parathyroid Tumour v0.1 | GCM2 |
Chirag Patel gene: GCM2 was added gene: GCM2 was added to Parathyroid Neoplasm. Sources: Expert list,Expert Review,Literature Mode of inheritance for gene: GCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GCM2 were set to PMID: 27745835, 34967908, 33471711, 29108698 Phenotypes for gene: GCM2 were set to Tumor of parathyroid gland, MONDO:0021360; Hyperparathyroidism 4, MONDO:0024570; Hyperparathyroidism 4, MIM#617343 Mode of pathogenicity for gene: GCM2 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: GCM2 was set to GREEN Added comment: Established gene-disease association. Numerous families reported. GOF variants. Sources: Expert list, Expert Review, Literature |
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| Parathyroid Tumour v0.0 |
Chirag Patel Added Panel Parathyroid Neoplasm Set panel types to: Cancer Germline |
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