| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hyperparathyroidism v0.10 | Chirag Patel Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.9 | RET | Chirag Patel Marked gene: RET as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.9 | RET | Chirag Patel Gene: ret has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.9 | MEN1 | Chirag Patel Marked gene: MEN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.9 | MEN1 | Chirag Patel Gene: men1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.9 | GCM2 | Chirag Patel Marked gene: GCM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.9 | GCM2 | Chirag Patel Gene: gcm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.9 | CDKN1B | Chirag Patel Marked gene: CDKN1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.9 | CDKN1B | Chirag Patel Gene: cdkn1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.9 | CDC73 | Chirag Patel Marked gene: CDC73 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.9 | CDC73 | Chirag Patel Gene: cdc73 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.9 | Chirag Patel Copied gene GCM2 from panel Hypercalcaemia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.9 | GCM2 |
Chirag Patel gene: GCM2 was added gene: GCM2 was added to Hyperparathyroidism. Sources: Expert Review Green,Literature Mode of inheritance for gene: GCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GCM2 were set to 27745835 Phenotypes for gene: GCM2 were set to Hyperparathyroidism 4, OMIM #617343 Penetrance for gene: GCM2 were set to unknown Mode of pathogenicity for gene: GCM2 was set to Other |
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| Hyperparathyroidism v0.8 | Chirag Patel Copied gene RET from panel Calcium and Phosphate disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.8 | RET |
Chirag Patel gene: RET was added gene: RET was added to Hyperparathyroidism. Sources: Expert Review Green,Expert list,Expert Review Green,Expert Review 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, MIM# 171400; Multiple endocrine neoplasia IIB, MIM# 162300 |
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| Hyperparathyroidism v0.7 | Chirag Patel Copied gene MEN1 from panel Calcium and Phosphate disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.7 | MEN1 |
Chirag Patel gene: MEN1 was added gene: MEN1 was added to Hyperparathyroidism. Sources: Expert Review Green,Expert list,Expert list Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MEN1 were set to PMID: 31797261, 14985373 Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia 1 MIM#131100 |
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| Hyperparathyroidism v0.6 | Chirag Patel Copied gene CDKN1B from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.6 | CDKN1B |
Chirag Patel gene: CDKN1B was added gene: CDKN1B was added to Hyperparathyroidism. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDKN1B were set to 24819502; 17030811; 23555276 Phenotypes for gene: CDKN1B were set to Multiple endocrine neoplasia type 4, MEN4, OMIM #610755 |
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| Hyperparathyroidism v0.5 | Chirag Patel Copied gene CDC73 from panel Hypercalcaemia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.5 | CDC73 |
Chirag Patel gene: CDC73 was added gene: CDC73 was added to Hyperparathyroidism. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDC73 were set to 12434154 Phenotypes for gene: CDC73 were set to Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000 |
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| Hyperparathyroidism v0.4 | CASR | Chirag Patel Classified gene: CASR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.4 | CASR | Chirag Patel Gene: casr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.3 | CASR | Chirag Patel Marked gene: CASR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.3 | CASR | Chirag Patel Gene: casr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.3 | CASR |
Chirag Patel gene: CASR was added gene: CASR was added to Hyperparathyroidism. Sources: Genomics England PanelApp Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CASR were set to 8675635,15292296,9253359,8675635,25162666,28740527 Phenotypes for gene: CASR were set to Neonatal severe primary hyperparathyroidism, MONDO:0009397 Review for gene: CASR was set to GREEN Added comment: Well established gene-disease association. Sources: Genomics England PanelApp |
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| Hyperparathyroidism v0.2 | Chirag Patel Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.1 | Chirag Patel HPO terms changed from to Hyperparathyroidism, HP:0000843 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperparathyroidism v0.0 | Chirag Patel Added Panel Hyperparathyroidism | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||