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Hyperparathyroidism v1.0 RET Gene migrated from ENSG00000165731 to ENSG00000165731 (gene set migration)
Hyperparathyroidism v1.0 MEN1 Gene migrated from ENSG00000133895 to ENSG00000133895 (gene set migration)
Hyperparathyroidism v1.0 GCM2 Gene migrated from ENSG00000124827 to ENSG00000124827 (gene set migration)
Hyperparathyroidism v1.0 CDKN1B Gene migrated from ENSG00000111276 to ENSG00000111276 (gene set migration)
Hyperparathyroidism v1.0 CDC73 Gene migrated from ENSG00000134371 to ENSG00000134371 (gene set migration)
Hyperparathyroidism v1.0 CASR Gene migrated from ENSG00000036828 to ENSG00000036828 (gene set migration)
Hyperparathyroidism v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.12
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
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
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
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
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
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
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