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Hypercalcaemia v2.0 NHERF1 Gene symbol changed from SLC9A3R1 to NHERF1 during gene set migration (ENSG00000109062 -> ENSG00000109062)
Hypercalcaemia v2.0 CDC73 Gene migrated from ENSG00000134371 to ENSG00000134371 (gene set migration)
Hypercalcaemia v2.0 CASR Gene migrated from ENSG00000036828 to ENSG00000036828 (gene set migration)
Hypercalcaemia v2.0 AP2S1 Gene migrated from ENSG00000042753 to ENSG00000042753 (gene set migration)
Hypercalcaemia v2.0 RET Gene migrated from ENSG00000165731 to ENSG00000165731 (gene set migration)
Hypercalcaemia v2.0 GNA11 Gene migrated from ENSG00000088256 to ENSG00000088256 (gene set migration)
Hypercalcaemia v2.0 PTH1R Gene migrated from ENSG00000160801 to ENSG00000160801 (gene set migration)
Hypercalcaemia v2.0 CDKN1B Gene migrated from ENSG00000111276 to ENSG00000111276 (gene set migration)
Hypercalcaemia v2.0 GCM2 Gene migrated from ENSG00000124827 to ENSG00000124827 (gene set migration)
Hypercalcaemia v2.0 SLC34A1 Gene migrated from ENSG00000131183 to ENSG00000131183 (gene set migration)
Hypercalcaemia v2.0 MEN1 Gene migrated from ENSG00000133895 to ENSG00000133895 (gene set migration)
Hypercalcaemia v2.0 CYP24A1 Gene migrated from ENSG00000019186 to ENSG00000019186 (gene set migration)
Hypercalcaemia v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.2
Hypercalcaemia v1.2 AP2S1 chirag patel reviewed gene: AP2S1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29325022; Phenotypes: Hypocalciuric hypercalcaemia, type III, MIM# 600740, MONDO:0010926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v1.2 Zornitza Stark HPO terms changed from to Hypercalcemia, HP:0003072
List of related panels changed from to Hypercalcemia; HP:0003072
Hypercalcaemia v1.0 Zornitza Stark promoted panel to version 1.0
Hypercalcaemia v0.38 SLC34A1 Zornitza Stark Marked gene: SLC34A1 as ready
Hypercalcaemia v0.38 SLC34A1 Zornitza Stark Gene: slc34a1 has been classified as Green List (High Evidence).
Hypercalcaemia v0.38 SLC34A1 Zornitza Stark Phenotypes for gene: SLC34A1 were changed from to Hypercalcaemia, infantile, 2 MIM#616963
Hypercalcaemia v0.37 SLC34A1 Zornitza Stark Publications for gene: SLC34A1 were set to
Hypercalcaemia v0.36 SLC34A1 Zornitza Stark Mode of inheritance for gene: SLC34A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypercalcaemia v0.35 SLC34A1 Zornitza Stark reviewed gene: SLC34A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26047794, 33516786, 33099630, 32866123, 31188746, 30943683; Phenotypes: Hypercalcaemia, infantile, 2 MIM#616963; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypercalcaemia v0.35 PTH1R Zornitza Stark Marked gene: PTH1R as ready
Hypercalcaemia v0.35 PTH1R Zornitza Stark Gene: pth1r has been classified as Green List (High Evidence).
Hypercalcaemia v0.35 PTH1R Zornitza Stark Phenotypes for gene: PTH1R were changed from to Metaphyseal chondrodysplasia, Murk Jansen type, MIM# 156400; MONDO:0007982
Hypercalcaemia v0.34 PTH1R Zornitza Stark Publications for gene: PTH1R were set to
Hypercalcaemia v0.33 PTH1R Zornitza Stark Mode of inheritance for gene: PTH1R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.32 PTH1R Zornitza Stark reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 7701349, 29788189; Phenotypes: Metaphyseal chondrodysplasia, Murk Jansen type, MIM# 156400, MONDO:0007982; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.32 GNA11 Zornitza Stark Marked gene: GNA11 as ready
Hypercalcaemia v0.32 GNA11 Zornitza Stark Gene: gna11 has been classified as Green List (High Evidence).
Hypercalcaemia v0.32 GNA11 Zornitza Stark Phenotypes for gene: GNA11 were changed from to Hypocalciuric hypercalcaemia, type II, MIM# 145981; MONDO:0007792
Hypercalcaemia v0.31 GNA11 Zornitza Stark Publications for gene: GNA11 were set to
Hypercalcaemia v0.30 GNA11 Zornitza Stark Mode of inheritance for gene: GNA11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.29 GNA11 Zornitza Stark reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23802516, 28833550, 27913609; Phenotypes: Hypocalciuric hypercalcaemia, type II, MIM# 145981, MONDO:0007792; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.29 MEN1 Zornitza Stark Marked gene: MEN1 as ready
Hypercalcaemia v0.29 MEN1 Zornitza Stark Gene: men1 has been classified as Green List (High Evidence).
Hypercalcaemia v0.29 CYP24A1 Zornitza Stark Phenotypes for gene: CYP24A1 were changed from Hypercalcaemia, infantile, 1, MIM# 143880 to Hypercalcaemia, infantile, 1, MIM# 143880; MONDO:0020739
Hypercalcaemia v0.28 CYP24A1 Zornitza Stark edited their review of gene: CYP24A1: Changed phenotypes: Hypercalcaemia, infantile, 1, MIM# 143880, MONDO:0020739
Hypercalcaemia v0.28 CYP24A1 Zornitza Stark Marked gene: CYP24A1 as ready
Hypercalcaemia v0.28 CYP24A1 Zornitza Stark Gene: cyp24a1 has been classified as Green List (High Evidence).
Hypercalcaemia v0.28 CYP24A1 Zornitza Stark Phenotypes for gene: CYP24A1 were changed from to Hypercalcaemia, infantile, 1, MIM# 143880
Hypercalcaemia v0.27 CYP24A1 Zornitza Stark Publications for gene: CYP24A1 were set to
Hypercalcaemia v0.26 CYP24A1 Zornitza Stark Mode of inheritance for gene: CYP24A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypercalcaemia v0.25 CYP24A1 Zornitza Stark reviewed gene: CYP24A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21675912, 22047572, 33516786, 33186763, 32866123, 32743688; Phenotypes: Hypercalcaemia, infantile, 1, MIM# 143880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypercalcaemia v0.25 CDC73 Zornitza Stark Marked gene: CDC73 as ready
Hypercalcaemia v0.25 CDC73 Zornitza Stark Gene: cdc73 has been classified as Green List (High Evidence).
Hypercalcaemia v0.25 CDC73 Zornitza Stark Phenotypes for gene: CDC73 were changed from to Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000
Hypercalcaemia v0.24 CDC73 Zornitza Stark Publications for gene: CDC73 were set to
Hypercalcaemia v0.23 CDC73 Zornitza Stark Mode of inheritance for gene: CDC73 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.22 CDC73 Zornitza Stark reviewed gene: CDC73: Rating: GREEN; Mode of pathogenicity: None; Publications: 12434154; Phenotypes: Hyperparathyroidism-jaw tumour syndrome, MIM# 145001, Hyperparathyroidism, familial primary, MIM# 145000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.22 CASR Zornitza Stark Marked gene: CASR as ready
Hypercalcaemia v0.22 CASR Zornitza Stark Gene: casr has been classified as Green List (High Evidence).
Hypercalcaemia v0.22 CASR Zornitza Stark Phenotypes for gene: CASR were changed from to Hypocalciuric hypercalcaemia, type I, MIM# 145980; Hyperparathyroidism, neonatal, MIM# 239200
Hypercalcaemia v0.21 CASR Zornitza Stark Publications for gene: CASR were set to
Hypercalcaemia v0.20 CASR Zornitza Stark Mode of inheritance for gene: CASR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypercalcaemia v0.19 CASR Zornitza Stark reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: None; Publications: 7916660, 7726161, 8675635, 17698911; Phenotypes: Hypocalciuric hypercalcaemia, type I, MIM# 145980, Hyperparathyroidism, neonatal, MIM# 239200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypercalcaemia v0.19 AP2S1 Zornitza Stark Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III, MIM# 600740; MONDO:0010926 to Hypocalciuric hypercalcaemia, type III, MIM# 600740; MONDO:0010926
Hypercalcaemia v0.18 AP2S1 Zornitza Stark edited their review of gene: AP2S1: Changed phenotypes: Hypocalciuric hypercalcaemia, type III, MIM# 600740, MONDO:0010926
Hypercalcaemia v0.18 AP2S1 Zornitza Stark Marked gene: AP2S1 as ready
Hypercalcaemia v0.18 AP2S1 Zornitza Stark Gene: ap2s1 has been classified as Green List (High Evidence).
Hypercalcaemia v0.18 AP2S1 Zornitza Stark Phenotypes for gene: AP2S1 were changed from to Hypocalciuric hypercalcemia, type III, MIM# 600740; MONDO:0010926
Hypercalcaemia v0.17 AP2S1 Zornitza Stark Publications for gene: AP2S1 were set to
Hypercalcaemia v0.16 AP2S1 Zornitza Stark Mode of inheritance for gene: AP2S1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.15 AP2S1 Zornitza Stark reviewed gene: AP2S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222959, 33729479, 33168530, 3204769, 31723423, 29479578; Phenotypes: Hypocalciuric hypercalcemia, type III, MIM# 600740, MONDO:0010926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.15 RET Zornitza Stark Marked gene: RET as ready
Hypercalcaemia v0.15 RET Zornitza Stark Gene: ret has been classified as Green List (High Evidence).
Hypercalcaemia v0.15 RET Zornitza Stark Classified gene: RET as Green List (high evidence)
Hypercalcaemia v0.15 RET Zornitza Stark Gene: ret has been classified as Green List (High Evidence).
Hypercalcaemia v0.14 RET Zornitza Stark gene: RET was added
gene: RET was added to Hypercalcaemia. Sources: 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
Review for gene: RET was set to GREEN
Added comment: Well established gene-disease association, hyperparathyroidism is a feature.
Sources: Expert Review
Hypercalcaemia v0.13 GCM2 Zornitza Stark Mode of pathogenicity for gene: GCM2 was changed from None to Other
Hypercalcaemia v0.12 CDKN1B Alison Yeung Marked gene: CDKN1B as ready
Hypercalcaemia v0.12 CDKN1B Alison Yeung Gene: cdkn1b has been classified as Green List (High Evidence).
Hypercalcaemia v0.12 CDKN1B Alison Yeung Classified gene: CDKN1B as Green List (high evidence)
Hypercalcaemia v0.12 CDKN1B Alison Yeung Gene: cdkn1b has been classified as Green List (High Evidence).
Hypercalcaemia v0.12 CDKN1B Alison Yeung Classified gene: CDKN1B as Green List (high evidence)
Hypercalcaemia v0.12 CDKN1B Alison Yeung Gene: cdkn1b has been classified as Green List (High Evidence).
Hypercalcaemia v0.11 CDKN1B Alison Yeung gene: CDKN1B was added
gene: CDKN1B was added to Hypercalcaemia. Sources: Literature
Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Review for gene: CDKN1B was set to GREEN
gene: CDKN1B was marked as current diagnostic
Added comment: More than 3 unrelated individuals reported.
Sources: Literature
Hypercalcaemia v0.10 GCM2 Alison Yeung Marked gene: GCM2 as ready
Hypercalcaemia v0.10 GCM2 Alison Yeung Gene: gcm2 has been classified as Green List (High Evidence).
Hypercalcaemia v0.10 GCM2 Alison Yeung Classified gene: GCM2 as Green List (high evidence)
Hypercalcaemia v0.10 GCM2 Alison Yeung Gene: gcm2 has been classified as Green List (High Evidence).
Hypercalcaemia v0.9 GCM2 Alison Yeung gene: GCM2 was added
gene: GCM2 was added to Hypercalcaemia. Sources: 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
Review for gene: GCM2 was set to GREEN
Added comment: 7 unrelated kindreds with causative variants identified. Functional studies demonstrated gain-of-function/activating mutations
Sources: Literature
Hypercalcaemia v0.8 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital
Hypercalcaemia v0.7 MEN1 Bryony Thompson Classified gene: MEN1 as Green List (high evidence)
Hypercalcaemia v0.7 MEN1 Bryony Thompson Added comment: Comment on list classification: Gene requested by endocrinologists at RMH to be on this panel
Hypercalcaemia v0.7 MEN1 Bryony Thompson Gene: men1 has been classified as Green List (High Evidence).
Hypercalcaemia v0.6 MEN1 Bryony Thompson gene: MEN1 was added
gene: MEN1 was added to Hypercalcaemia. Sources: Expert list
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MEN1 were set to 31797261; 14985373
Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia 1 MIM#131100
Review for gene: MEN1 was set to GREEN
Added comment: Hypercalcaemia is a prominent feature of familial hyperparathyroidism that has been caused by MEN1 in at least 5 cases.
Sources: Expert list
Hypercalcaemia v0.5 SLC9A3R1 Zornitza Stark Marked gene: SLC9A3R1 as ready
Hypercalcaemia v0.5 SLC9A3R1 Zornitza Stark Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Hypercalcaemia v0.5 SLC9A3R1 Zornitza Stark Mode of inheritance for gene: SLC9A3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.4 SLC9A3R1 Zornitza Stark Phenotypes for gene: SLC9A3R1 were changed from to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
Hypercalcaemia v0.3 SLC9A3R1 Zornitza Stark Publications for gene: SLC9A3R1 were set to
Hypercalcaemia v0.2 SLC9A3R1 Zornitza Stark Classified gene: SLC9A3R1 as Red List (low evidence)
Hypercalcaemia v0.2 SLC9A3R1 Zornitza Stark Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Hypercalcaemia v0.1 SLC9A3R1 Zornitza Stark reviewed gene: SLC9A3R1: Rating: RED; Mode of pathogenicity: None; Publications: 18784102; Phenotypes: Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.1 Zornitza Stark Panel name changed from Hypercalcaemia_VCGS to Hypercalcaemia
Panel types changed to Victorian Clinical Genetics Services
Hypercalcaemia v0.0 SLC9A3R1 Zornitza Stark gene: SLC9A3R1 was added
gene: SLC9A3R1 was added to Hypercalcaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC9A3R1 was set to Unknown
Hypercalcaemia v0.0 SLC34A1 Zornitza Stark gene: SLC34A1 was added
gene: SLC34A1 was added to Hypercalcaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC34A1 was set to Unknown
Hypercalcaemia v0.0 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to Hypercalcaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTH1R was set to Unknown
Hypercalcaemia v0.0 GNA11 Zornitza Stark gene: GNA11 was added
gene: GNA11 was added to Hypercalcaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNA11 was set to Unknown
Hypercalcaemia v0.0 CYP24A1 Zornitza Stark gene: CYP24A1 was added
gene: CYP24A1 was added to Hypercalcaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYP24A1 was set to Unknown
Hypercalcaemia v0.0 CDC73 Zornitza Stark gene: CDC73 was added
gene: CDC73 was added to Hypercalcaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDC73 was set to Unknown
Hypercalcaemia v0.0 CASR Zornitza Stark gene: CASR was added
gene: CASR was added to Hypercalcaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CASR was set to Unknown
Hypercalcaemia v0.0 AP2S1 Zornitza Stark gene: AP2S1 was added
gene: AP2S1 was added to Hypercalcaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AP2S1 was set to Unknown
Hypercalcaemia v0.0 Zornitza Stark Added panel Hypercalcaemia_VCGS