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Calcium and Phosphate disorders v1.24 SGK3 Bryony Thompson Marked gene: SGK3 as ready
Calcium and Phosphate disorders v1.24 SGK3 Bryony Thompson Gene: sgk3 has been classified as Red List (Low Evidence).
Calcium and Phosphate disorders v1.24 SGK3 Bryony Thompson gene: SGK3 was added
gene: SGK3 was added to Calcium and Phosphate disorders. Sources: Literature
Mode of inheritance for gene: SGK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SGK3 were set to 31821448; 21451460
Phenotypes for gene: SGK3 were set to Hypophosphatemic rickets
Review for gene: SGK3 was set to RED
Added comment: SGK3 c.979-96T>A reported to segregate in the single family is more common in gnomAD v4.1 than expected for a dominant disease: global allele frequency of 0.004729 (0.5%, 5,882/1,243,870 alleles, 27 homozygotes in gnomAD v4.1).
A knockout mouse model had decreased bone density and increased phosphaturia.
Sources: Literature
Calcium and Phosphate disorders v1.23 EHHADH Zornitza Stark Marked gene: EHHADH as ready
Calcium and Phosphate disorders v1.23 EHHADH Zornitza Stark Gene: ehhadh has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v1.23 EHHADH Zornitza Stark Classified gene: EHHADH as Green List (high evidence)
Calcium and Phosphate disorders v1.23 EHHADH Zornitza Stark Gene: ehhadh has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v1.22 NRAS Bryony Thompson Marked gene: NRAS as ready
Calcium and Phosphate disorders v1.22 NRAS Bryony Thompson Gene: nras has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v1.22 NRAS Bryony Thompson Classified gene: NRAS as Green List (high evidence)
Calcium and Phosphate disorders v1.22 NRAS Bryony Thompson Gene: nras has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v1.21 NRAS Bryony Thompson gene: NRAS was added
gene: NRAS was added to Calcium and Phosphate disorders. Sources: Literature
Mode of inheritance for gene: NRAS was set to Other
Publications for gene: NRAS were set to 24006476; 35999193; 32157705; 27900779
Phenotypes for gene: NRAS were set to Costello syndrome MONDO:0009026
Mode of pathogenicity for gene: NRAS was set to Other
Review for gene: NRAS was set to GREEN
gene: NRAS was marked as current diagnostic
Added comment: 5 cases with cutaneous skeletal hypophosphatemia syndrome and all with somatic mosaic activating NRAS Q61R
Sources: Literature
Calcium and Phosphate disorders v1.20 HRAS Bryony Thompson Marked gene: HRAS as ready
Calcium and Phosphate disorders v1.20 HRAS Bryony Thompson Gene: hras has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v1.20 HRAS Bryony Thompson Classified gene: HRAS as Green List (high evidence)
Calcium and Phosphate disorders v1.20 HRAS Bryony Thompson Gene: hras has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v1.19 HRAS Bryony Thompson gene: HRAS was added
gene: HRAS was added to Calcium and Phosphate disorders. Sources: Literature
Mode of inheritance for gene: HRAS was set to Other
Publications for gene: HRAS were set to 35738466; 36943390; 30373874; 27444071
Phenotypes for gene: HRAS were set to Costello syndrome MONDO:0009026
Mode of pathogenicity for gene: HRAS was set to Other
Review for gene: HRAS was set to GREEN
gene: HRAS was marked as current diagnostic
Added comment: Gain of function is the mechanism of disease and only somatic mosaic variants have been reported in association with hypophosphataemia
PMID: 35738466 - 1 case with a VUS & vitamin dependent rickets as a feature of the phenotype
PMID: 36943390 - mouse model with hypophosphataemia
PMID: 30373874 - 1 somatic mosaic HRAS c.182A>G (p.Gln61Arg) case with cutaneous skeletal hypophosphatemia syndrome (CSHS)
PMID: 27444071 - review with 4 cases of CSHS with somatic mosaic variants (G13R or Q61R)
Sources: Literature
Calcium and Phosphate disorders v1.18 ATP6V0A4 Bryony Thompson Marked gene: ATP6V0A4 as ready
Calcium and Phosphate disorders v1.18 ATP6V0A4 Bryony Thompson Gene: atp6v0a4 has been classified as Red List (Low Evidence).
Calcium and Phosphate disorders v1.18 ATP6V0A4 Bryony Thompson gene: ATP6V0A4 was added
gene: ATP6V0A4 was added to Calcium and Phosphate disorders. Sources: Literature
Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V0A4 were set to 35738466
Phenotypes for gene: ATP6V0A4 were set to renal tubular acidosis, distal, 3, with or without sensorineural hearing loss MONDO:0011268
Review for gene: ATP6V0A4 was set to RED
Added comment: 1 homozygous case with hypophosphataemic rickets and renal tubular dysfunction
Sources: Literature
Calcium and Phosphate disorders v1.17 ATP6V1B1 Bryony Thompson Marked gene: ATP6V1B1 as ready
Calcium and Phosphate disorders v1.17 ATP6V1B1 Bryony Thompson Gene: atp6v1b1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v1.17 ATP6V1B1 Bryony Thompson Classified gene: ATP6V1B1 as Green List (high evidence)
Calcium and Phosphate disorders v1.17 ATP6V1B1 Bryony Thompson Gene: atp6v1b1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v1.16 ATP6V1B1 Bryony Thompson gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to Calcium and Phosphate disorders. Sources: Literature
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1B1 were set to 35738466; 18386070
Phenotypes for gene: ATP6V1B1 were set to renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss MONDO:0009968
Review for gene: ATP6V1B1 was set to GREEN
gene: ATP6V1B1 was marked as current diagnostic
Added comment: Hypophosphataemic rickets can be a feature of the condition
PMID: 35738466 - 2 homozygous & 1 Chet case with hypophosphataemic rickets and renal tubular dysfunction
PMID: 18386070 - 2 siblings with distal renal tubular acidosis and hypophosphataemic rickets homozygous for a missense variant (c.242T>C p.Leu81Pro)
Sources: Literature
Calcium and Phosphate disorders v1.10 EHHADH Bryony Thompson gene: EHHADH was added
gene: EHHADH was added to Calcium and Phosphate disorders. Sources: Literature
Mode of inheritance for gene: EHHADH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EHHADH were set to 24401050; 35738466; 38310177
Phenotypes for gene: EHHADH were set to Fanconi renotubular syndrome 3 MONDO:0014275
Review for gene: EHHADH was set to GREEN
Added comment: Now 3 different variants from 4 families/cases were reported with consistent phenotypes. Assessed as Limited by ClinGen in March 2023. However, this assessment doesn't include: PMID: 35738466, 38310177; https://clinmedjournals.org/articles/jcnrc/journal-of-clinical-nephrology-and-renal-care-jcnrc-3-027.pdf
Additional info:
PMID: 35738466 - 1 family (proband and mother) with missense (c.385C>G, p.Leu129Val) with hypophosphataemic rickets and renal tubular dysfunction
PMID: 38310177 - case with a diagnosis of Fanconi renotubular syndrome with a whole gene deletion. Hypophosphataemic rickets was part of the clinical presentation
Sources: Literature
Calcium and Phosphate disorders v1.10 EHHADH Bryony Thompson gene: EHHADH was added
gene: EHHADH was added to Calcium and Phosphate disorders. Sources: Literature
Mode of inheritance for gene: EHHADH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EHHADH were set to 24401050; 35738466; 38310177
Phenotypes for gene: EHHADH were set to Fanconi renotubular syndrome 3 MONDO:0014275
Review for gene: EHHADH was set to GREEN
Added comment: Now 3 different variants from 4 families/cases were reported with consistent phenotypes. Assessed as Limited by ClinGen in March 2023. However, this assessment doesn't include: PMID: 35738466, 38310177; https://clinmedjournals.org/articles/jcnrc/journal-of-clinical-nephrology-and-renal-care-jcnrc-3-027.pdf
Additional info:
PMID: 35738466 - 1 family (proband and mother) with missense (c.385C>G, p.Leu129Val) with hypophosphataemic rickets and renal tubular dysfunction
PMID: 38310177 - case with a diagnosis of Fanconi renotubular syndrome with a whole gene deletion. Hypophosphataemic rickets was part of the clinical presentation
Sources: Literature
Calcium and Phosphate disorders v1.9 FGFR1 Bryony Thompson Marked gene: FGFR1 as ready
Calcium and Phosphate disorders v1.9 FGFR1 Bryony Thompson Gene: fgfr1 has been classified as Amber List (Moderate Evidence).
Calcium and Phosphate disorders v1.9 FGFR1 Bryony Thompson Classified gene: FGFR1 as Amber List (moderate evidence)
Calcium and Phosphate disorders v1.9 FGFR1 Bryony Thompson Gene: fgfr1 has been classified as Amber List (Moderate Evidence).
Calcium and Phosphate disorders v1.8 FGFR1 Bryony Thompson gene: FGFR1 was added
gene: FGFR1 was added to Calcium and Phosphate disorders. Sources: Other
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR1 were set to 35738466; 36999651; 29147600; 26839958
Phenotypes for gene: FGFR1 were set to osteoglophonic dwarfism MONDO:0008150
Review for gene: FGFR1 was set to AMBER
gene: FGFR1 was marked as current diagnostic
Added comment: PMID: 35738466 - 1 case with vitamin dependent rickets & osteoglophonic dysplasia
PMID: 36999651 - 1 missense (VUS) in a case with hypophosphataemia
PMID: 29147600 - 1 case with Osteoglophonic dysplasia including hypophosphataemia, with c.1115G > A [p.(Cys372Tyr)]
PMID: 26839958 - mouse model demonstrates role for Fgrf1 in phosphate transport
Sources: Other
Calcium and Phosphate disorders v1.7 INPPL1 Bryony Thompson Marked gene: INPPL1 as ready
Calcium and Phosphate disorders v1.7 INPPL1 Bryony Thompson Gene: inppl1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v1.7 INPPL1 Bryony Thompson Classified gene: INPPL1 as Green List (high evidence)
Calcium and Phosphate disorders v1.7 INPPL1 Bryony Thompson Gene: inppl1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v1.6 INPPL1 Bryony Thompson gene: INPPL1 was added
gene: INPPL1 was added to Calcium and Phosphate disorders. Sources: Other
Mode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPPL1 were set to 23273567
Phenotypes for gene: INPPL1 were set to opsismodysplasia MONDO:0009785
Review for gene: INPPL1 was set to GREEN
gene: INPPL1 was marked as current diagnostic
Added comment: Hypophosphataemia can be a feature of the condition and has been reported in at least 5 individuals with chet/homozygous variants from 4 families.
Sources: Other
Calcium and Phosphate disorders v1.5 SLC4A1 Bryony Thompson Marked gene: SLC4A1 as ready
Calcium and Phosphate disorders v1.5 SLC4A1 Bryony Thompson Gene: slc4a1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v1.5 SLC4A1 Bryony Thompson changed review comment from: Hypophosphataemic rickets can be a feature of condition
PMID: 35738466 - 5 monoallelic & 2 biallelic cases with hypophosphataemic rickets and renal tubular dysfunction
Sources: Literature; to: Hypophosphataemic rickets can be a feature of the condition
PMID: 35738466 - 5 monoallelic & 2 biallelic cases with hypophosphataemic rickets and renal tubular dysfunction
Sources: Literature
Calcium and Phosphate disorders v1.5 SLC4A1 Bryony Thompson edited their review of gene: SLC4A1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Calcium and Phosphate disorders v1.5 SLC4A1 Bryony Thompson Mode of inheritance for gene: SLC4A1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Calcium and Phosphate disorders v1.4 SLC4A1 Bryony Thompson edited their review of gene: SLC4A1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v1.4 SLC4A1 Bryony Thompson Classified gene: SLC4A1 as Green List (high evidence)
Calcium and Phosphate disorders v1.4 SLC4A1 Bryony Thompson Gene: slc4a1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v1.3 SLC4A1 Bryony Thompson gene: SLC4A1 was added
gene: SLC4A1 was added to Calcium and Phosphate disorders. Sources: Literature
Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLC4A1 were set to 35738466
Phenotypes for gene: SLC4A1 were set to renal tubular acidosis, distal, 4, with hemolytic anemia MONDO:0012700
Review for gene: SLC4A1 was set to GREEN
gene: SLC4A1 was marked as current diagnostic
Added comment: Hypophosphataemic rickets can be a feature of condition
PMID: 35738466 - 5 monoallelic & 2 biallelic cases with hypophosphataemic rickets and renal tubular dysfunction
Sources: Literature
Calcium and Phosphate disorders v1.2 SLC2A2 Bryony Thompson Marked gene: SLC2A2 as ready
Calcium and Phosphate disorders v1.2 SLC2A2 Bryony Thompson Gene: slc2a2 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v1.2 SLC2A2 Bryony Thompson Classified gene: SLC2A2 as Green List (high evidence)
Calcium and Phosphate disorders v1.2 SLC2A2 Bryony Thompson Gene: slc2a2 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v1.1 SLC2A2 Bryony Thompson gene: SLC2A2 was added
gene: SLC2A2 was added to Calcium and Phosphate disorders. Sources: Literature
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A2 were set to 35738466
Phenotypes for gene: SLC2A2 were set to glycogen storage disease due to GLUT2 deficiency MONDO:0009216
Review for gene: SLC2A2 was set to GREEN
gene: SLC2A2 was marked as current diagnostic
Added comment: Hypophosphataemic rickets can be a feature of the condition.
PMID: 35738466 - 4 homozygous & 1 Chet case with hypophosphataemic rickets and renal tubular dysfunction
Sources: Literature
Calcium and Phosphate disorders v1.0 Bryony Thompson promoted panel to version 1.0
Calcium and Phosphate disorders v0.125 VDR Bryony Thompson Marked gene: VDR as ready
Calcium and Phosphate disorders v0.125 VDR Bryony Thompson Gene: vdr has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.125 VDR Bryony Thompson Phenotypes for gene: VDR were changed from to Rickets, vitamin D-resistant, type IIA, MIM# 277440
Calcium and Phosphate disorders v0.124 VDR Bryony Thompson Publications for gene: VDR were set to
Calcium and Phosphate disorders v0.123 VDR Bryony Thompson Mode of inheritance for gene: VDR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.122 SLC34A1 Bryony Thompson Marked gene: SLC34A1 as ready
Calcium and Phosphate disorders v0.122 SLC34A1 Bryony Thompson Gene: slc34a1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.122 SLC34A1 Bryony Thompson Phenotypes for gene: SLC34A1 were changed from to Hypercalcaemia, infantile, 2 MIM#616963
Calcium and Phosphate disorders v0.121 SLC34A1 Bryony Thompson Publications for gene: SLC34A1 were set to
Calcium and Phosphate disorders v0.120 SLC34A1 Bryony Thompson Mode of inheritance for gene: SLC34A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.119 PTH1R Bryony Thompson Marked gene: PTH1R as ready
Calcium and Phosphate disorders v0.119 PTH1R Bryony Thompson Gene: pth1r has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.119 PTH1R Bryony Thompson Phenotypes for gene: PTH1R were changed from to Metaphyseal chondrodysplasia, Murk Jansen type, MIM# 156400; MONDO:0007982
Calcium and Phosphate disorders v0.118 PTH1R Bryony Thompson Publications for gene: PTH1R were set to
Calcium and Phosphate disorders v0.117 PTH1R Bryony Thompson Mode of pathogenicity for gene: PTH1R was changed from to Other
Calcium and Phosphate disorders v0.116 PTH1R Bryony Thompson Mode of inheritance for gene: PTH1R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Calcium and Phosphate disorders v0.115 GNA11 Bryony Thompson Marked gene: GNA11 as ready
Calcium and Phosphate disorders v0.115 GNA11 Bryony Thompson Gene: gna11 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.115 GNA11 Bryony Thompson Phenotypes for gene: GNA11 were changed from to Hypocalcemia, autosomal dominant 2 MIM#615361; Hypocalciuric hypercalcemia, type II MIM#145981
Calcium and Phosphate disorders v0.114 GNA11 Bryony Thompson Publications for gene: GNA11 were set to
Calcium and Phosphate disorders v0.113 GNA11 Bryony Thompson Mode of pathogenicity for gene: GNA11 was changed from to Other
Calcium and Phosphate disorders v0.112 GNA11 Bryony Thompson Mode of inheritance for gene: GNA11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Calcium and Phosphate disorders v0.111 GALNT3 Bryony Thompson Marked gene: GALNT3 as ready
Calcium and Phosphate disorders v0.111 GALNT3 Bryony Thompson Gene: galnt3 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.111 GALNT3 Bryony Thompson Phenotypes for gene: GALNT3 were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900
Calcium and Phosphate disorders v0.110 GALNT3 Bryony Thompson Publications for gene: GALNT3 were set to
Calcium and Phosphate disorders v0.109 GALNT3 Bryony Thompson Mode of inheritance for gene: GALNT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.108 FGF23 Bryony Thompson Marked gene: FGF23 as ready
Calcium and Phosphate disorders v0.108 FGF23 Bryony Thompson Gene: fgf23 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.108 FGF23 Bryony Thompson Phenotypes for gene: FGF23 were changed from to autosomal dominant hypophosphatemic rickets MONDO:0008660; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251
Calcium and Phosphate disorders v0.107 FGF23 Bryony Thompson Publications for gene: FGF23 were set to
Calcium and Phosphate disorders v0.106 FGF23 Bryony Thompson Mode of pathogenicity for gene: FGF23 was changed from to Other
Calcium and Phosphate disorders v0.105 FGF23 Bryony Thompson Mode of inheritance for gene: FGF23 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.104 FAM111A Bryony Thompson Marked gene: FAM111A as ready
Calcium and Phosphate disorders v0.104 FAM111A Bryony Thompson Gene: fam111a has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.104 FAM111A Bryony Thompson Phenotypes for gene: FAM111A were changed from to autosomal dominant Kenny-Caffey syndrome MONDO:0007478
Calcium and Phosphate disorders v0.103 FAM111A Bryony Thompson Publications for gene: FAM111A were set to
Calcium and Phosphate disorders v0.102 FAM111A Bryony Thompson Mode of inheritance for gene: FAM111A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Calcium and Phosphate disorders v0.101 ENPP1 Bryony Thompson Marked gene: ENPP1 as ready
Calcium and Phosphate disorders v0.101 ENPP1 Bryony Thompson Gene: enpp1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.101 ENPP1 Bryony Thompson Phenotypes for gene: ENPP1 were changed from to Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
Calcium and Phosphate disorders v0.100 ENPP1 Bryony Thompson Publications for gene: ENPP1 were set to
Calcium and Phosphate disorders v0.99 ENPP1 Bryony Thompson Mode of inheritance for gene: ENPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.98 DMP1 Bryony Thompson Marked gene: DMP1 as ready
Calcium and Phosphate disorders v0.98 DMP1 Bryony Thompson Gene: dmp1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.98 DMP1 Bryony Thompson Phenotypes for gene: DMP1 were changed from to Hypophosphatemic rickets MIM#241520
Calcium and Phosphate disorders v0.97 DMP1 Bryony Thompson Publications for gene: DMP1 were set to
Calcium and Phosphate disorders v0.96 DMP1 Bryony Thompson Mode of inheritance for gene: DMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.95 TRPV6 Bryony Thompson Marked gene: TRPV6 as ready
Calcium and Phosphate disorders v0.95 TRPV6 Bryony Thompson Gene: trpv6 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.95 TRPV6 Bryony Thompson Classified gene: TRPV6 as Green List (high evidence)
Calcium and Phosphate disorders v0.95 TRPV6 Bryony Thompson Gene: trpv6 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.94 CYP2R1 Bryony Thompson Marked gene: CYP2R1 as ready
Calcium and Phosphate disorders v0.94 CYP2R1 Bryony Thompson Gene: cyp2r1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.94 CYP2R1 Bryony Thompson Phenotypes for gene: CYP2R1 were changed from to Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081
Calcium and Phosphate disorders v0.93 CYP2R1 Bryony Thompson Publications for gene: CYP2R1 were set to
Calcium and Phosphate disorders v0.92 CYP2R1 Bryony Thompson Mode of inheritance for gene: CYP2R1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.91 CYP27B1 Bryony Thompson Marked gene: CYP27B1 as ready
Calcium and Phosphate disorders v0.91 CYP27B1 Bryony Thompson Gene: cyp27b1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.91 CYP27B1 Bryony Thompson Phenotypes for gene: CYP27B1 were changed from to Vitamin D-dependent rickets, type I MIM#264700
Calcium and Phosphate disorders v0.90 CYP27B1 Bryony Thompson Publications for gene: CYP27B1 were set to
Calcium and Phosphate disorders v0.89 CYP27B1 Bryony Thompson Mode of inheritance for gene: CYP27B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.88 CDC73 Bryony Thompson Marked gene: CDC73 as ready
Calcium and Phosphate disorders v0.88 CDC73 Bryony Thompson Gene: cdc73 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.88 CDC73 Bryony Thompson Phenotypes for gene: CDC73 were changed from to Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000
Calcium and Phosphate disorders v0.87 CDC73 Bryony Thompson Publications for gene: CDC73 were set to
Calcium and Phosphate disorders v0.86 CDC73 Bryony Thompson Mode of inheritance for gene: CDC73 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Calcium and Phosphate disorders v0.85 CASR Bryony Thompson Marked gene: CASR as ready
Calcium and Phosphate disorders v0.85 CASR Bryony Thompson Gene: casr has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.85 CASR Bryony Thompson Phenotypes for gene: CASR were changed from to Hyperparathyroidism, neonatal MIM#239200; Hypocalcemia, autosomal dominant MIM#601198; Hypocalcemia autosomal dominant, with Bartter syndrome MIM#601198; hypercalcemia, type I MIM#145980
Calcium and Phosphate disorders v0.84 CASR Bryony Thompson Publications for gene: CASR were set to
Calcium and Phosphate disorders v0.83 CASR Bryony Thompson Mode of inheritance for gene: CASR was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.81 TRPV6 Bryony Thompson gene: TRPV6 was added
gene: TRPV6 was added to Calcium and Phosphate disorders. Sources: Other
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 31930989; 29861107
Phenotypes for gene: TRPV6 were set to Hyperparathyroidism, transient neonatal, MIM# 618188
Calcium and Phosphate disorders v0.80 Zornitza Stark HPO terms changed from to Abnormal blood calcium levels, HP:0004363; Abnormal blood phosphate levels, HP:0100529
List of related panels changed from to Abnormal blood calcium levels; HP:0004363; Abnormal blood phosphate levels; HP:0100529
Calcium and Phosphate disorders v0.79 CYP27B1 Chirag Patel reviewed gene: CYP27B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9486994, 9415400, 12050193, 27473561, 34492747, 33823104; Phenotypes: Vitamin D-dependent rickets, type I MIM#264700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.76 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; KidGen; Genetic Health Queensland; Royal Melbourne Hospital
Calcium and Phosphate disorders v0.74 Chirag Patel Panel name changed from Renal abnormalities of calcium and phosphate metabolism to Calcium and Phosphate disorders
Panel types changed to Victorian Clinical Genetics Services; KidGen; Genetic Health Queensland
Calcium and Phosphate disorders v0.73 TBCE Chirag Patel Classified gene: TBCE as Green List (high evidence)
Calcium and Phosphate disorders v0.73 TBCE Chirag Patel Gene: tbce has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.72 TBCE Chirag Patel gene: TBCE was added
gene: TBCE was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Literature
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCE were set to PMID: 27666369
Phenotypes for gene: TBCE were set to Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410
Review for gene: TBCE was set to GREEN
Added comment: HRDS is an autosomal recessive multisystem disorder characterized by intrauterine and postnatal growth retardation, infantile-onset hypoparathyroidism that can result in severe hypocalcemic seizures, dysmorphic facial features, and developmental delay
Sources: Literature
Calcium and Phosphate disorders v0.71 GATM Chirag Patel Classified gene: GATM as Green List (high evidence)
Calcium and Phosphate disorders v0.71 GATM Chirag Patel Gene: gatm has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.70 GATM Chirag Patel gene: GATM was added
gene: GATM was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: GATM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATM were set to PMID: 29654216
Phenotypes for gene: GATM were set to Fanconi renotubular syndrome 1, MIM# 134600
Review for gene: GATM was set to GREEN
Added comment: 28 individuals from five unrelated families with renal phenotype and mono-allelic variants reported. Can show hypophosphatemic rickets, phosphaturia, and hypophosphatemia
Sources: Expert list
Calcium and Phosphate disorders v0.69 SLC12A1 Chirag Patel Classified gene: SLC12A1 as Green List (high evidence)
Calcium and Phosphate disorders v0.69 SLC12A1 Chirag Patel Gene: slc12a1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.68 SLC12A1 Chirag Patel gene: SLC12A1 was added
gene: SLC12A1 was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A1 were set to PMID: 8640224, 9355073, 28095294
Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1, OMIM #601678
Review for gene: SLC12A1 was set to GREEN
Added comment: Hypercalciuria and hypercalcemia seen in patients.
Sources: Expert list
Calcium and Phosphate disorders v0.67 PTH Chirag Patel Classified gene: PTH as Green List (high evidence)
Calcium and Phosphate disorders v0.67 PTH Chirag Patel Gene: pth has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.66 PTH Chirag Patel gene: PTH was added
gene: PTH was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: PTH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PTH were set to PMID: 2212001, 1302009, 10523031, 35165722, 32421798
Phenotypes for gene: PTH were set to Hypoparathyroidism, familial isolated 1, MIM# 146200
Review for gene: PTH was set to GREEN
Added comment: Multiple unrelated families reported with either mono- or bi-allelic variants in this gene and hypoparathyroidism.
Sources: Expert list
Calcium and Phosphate disorders v0.65 GATA3 Chirag Patel Classified gene: GATA3 as Green List (high evidence)
Calcium and Phosphate disorders v0.65 GATA3 Chirag Patel Gene: gata3 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.64 GATA3 Chirag Patel gene: GATA3 was added
gene: GATA3 was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA3 were set to PMID: 10935639, 11389161, 21120445, 26316437, 25771973, 27387476, 30396722
Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM #146255
Review for gene: GATA3 was set to GREEN
Added comment: HDR syndrome (HDRS), also known as Barakat syndrome, is a heterogeneous disorder characterized by the triad of Hypoparathyroidism (H), nerve Deafness (D) and/or Renal disease (R). Well established association.
Sources: Expert list
Calcium and Phosphate disorders v0.63 AIRE Chirag Patel Classified gene: AIRE as Green List (high evidence)
Calcium and Phosphate disorders v0.63 AIRE Chirag Patel Gene: aire has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.63 AIRE Chirag Patel Classified gene: AIRE as Green List (high evidence)
Calcium and Phosphate disorders v0.63 AIRE Chirag Patel Gene: aire has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.62 AIRE Chirag Patel gene: AIRE was added
gene: AIRE was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: AIRE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AIRE were set to PMID: 35521792
Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM #240300
Review for gene: AIRE was set to GREEN
Added comment: Autoimmune polyglandular syndrome type I is characterized by the presence of 2 of 3 major clinical symptoms: Addison disease, and/or hypoparathyroidism, and/or chronic mucocutaneous candidiasis (Neufeld et al., 1981). However, variable APS1 phenotypes have been observed, even among sibs. In addition, some patients may exhibit apparent isolated hypoparathyroidism, an early manifestation of APS1 with peak incidence at around age 5 years; over longterm follow-up, the development of additional features of APS1 may be observed
Sources: Expert list
Calcium and Phosphate disorders v0.61 CTNS Chirag Patel Classified gene: CTNS as Green List (high evidence)
Calcium and Phosphate disorders v0.61 CTNS Chirag Patel Gene: ctns has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.60 CTNS Chirag Patel gene: CTNS was added
gene: CTNS was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNS were set to PMID: 20301574, 9537412, 31068690
Phenotypes for gene: CTNS were set to Cystinosis, nephropathic MIM#219800
Review for gene: CTNS was set to GREEN
Added comment: Hypophosphatemic rickets is a prominent feature of cystinosis when untreated.
Sources: Expert list
Calcium and Phosphate disorders v0.59 OCRL Chirag Patel Classified gene: OCRL as Green List (high evidence)
Calcium and Phosphate disorders v0.59 OCRL Chirag Patel Gene: ocrl has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.59 OCRL Chirag Patel Classified gene: OCRL as Green List (high evidence)
Calcium and Phosphate disorders v0.59 OCRL Chirag Patel Gene: ocrl has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.58 OCRL Chirag Patel gene: OCRL was added
gene: OCRL was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: OCRL were set to PMID: 19773212, 27625797
Phenotypes for gene: OCRL were set to Lowe syndrome, MIM# 309000; Dent disease 2, MIM #300555
Review for gene: OCRL was set to GREEN
Added comment: Hyperphosphaturia and rickets seen in condition
Sources: Expert list
Calcium and Phosphate disorders v0.57 CLCN5 Chirag Patel Classified gene: CLCN5 as Green List (high evidence)
Calcium and Phosphate disorders v0.57 CLCN5 Chirag Patel Gene: clcn5 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.57 CLCN5 Chirag Patel Classified gene: CLCN5 as Green List (high evidence)
Calcium and Phosphate disorders v0.57 CLCN5 Chirag Patel Gene: clcn5 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.56 CLCN5 Chirag Patel gene: CLCN5 was added
gene: CLCN5 was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: CLCN5 were set to PMID: 8559248, 9596078
Phenotypes for gene: CLCN5 were set to Hypophosphatemic rickets, MIM# 300554; Hypophosphatemic rickets, MIM# 300554
Review for gene: CLCN5 was set to GREEN
Added comment: Well established association
Sources: Expert list
Calcium and Phosphate disorders v0.55 FAH Zornitza Stark Marked gene: FAH as ready
Calcium and Phosphate disorders v0.55 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.55 FAH Zornitza Stark Classified gene: FAH as Green List (high evidence)
Calcium and Phosphate disorders v0.55 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.54 FAM20C Zornitza Stark Marked gene: FAM20C as ready
Calcium and Phosphate disorders v0.54 FAM20C Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.54 ALPL Zornitza Stark Marked gene: ALPL as ready
Calcium and Phosphate disorders v0.54 ALPL Zornitza Stark Gene: alpl has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.54 RET Zornitza Stark Marked gene: RET as ready
Calcium and Phosphate disorders v0.54 RET Zornitza Stark Gene: ret has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.54 MEN1 Zornitza Stark Marked gene: MEN1 as ready
Calcium and Phosphate disorders v0.54 MEN1 Zornitza Stark Gene: men1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.54 CDKN1B Zornitza Stark Marked gene: CDKN1B as ready
Calcium and Phosphate disorders v0.54 CDKN1B Zornitza Stark Gene: cdkn1b has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.54 GCM2 Zornitza Stark Marked gene: GCM2 as ready
Calcium and Phosphate disorders v0.54 GCM2 Zornitza Stark Gene: gcm2 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.54 FAH Chirag Patel gene: FAH was added
gene: FAH was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to Tyrosinemia, type I, MIM# 276700
Review for gene: FAH was set to GREEN
Added comment: Hypophosphataemic rickets is a feature of this metabolic disorder.
Sources: Expert list
Calcium and Phosphate disorders v0.54 FAH Chirag Patel gene: FAH was added
gene: FAH was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to Tyrosinemia, type I, MIM# 276700
Review for gene: FAH was set to GREEN
Added comment: Hypophosphataemic rickets is a feature of this metabolic disorder.
Sources: Expert list
Calcium and Phosphate disorders v0.53 FAM20C Chirag Patel Classified gene: FAM20C as Green List (high evidence)
Calcium and Phosphate disorders v0.53 FAM20C Chirag Patel Gene: fam20c has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.52 FAM20C Chirag Patel gene: FAM20C was added
gene: FAM20C was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20C were set to Raine syndrome, MIM# 259775
Review for gene: FAM20C was set to GREEN
Added comment: Severe skeletal dysplasia where low phosphate is a feature.
Sources: Expert list
Calcium and Phosphate disorders v0.51 ALPL Chirag Patel Classified gene: ALPL as Green List (high evidence)
Calcium and Phosphate disorders v0.51 ALPL Chirag Patel Gene: alpl has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.50 ALPL Chirag Patel gene: ALPL was added
gene: ALPL was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: ALPL were set to Hypophosphatasia, infantile, OMIM #241500; Hypophosphatasia, childhood, OMIM #241510; Hypophosphatasia, adult, OMIM # 146300; Odontohypophosphatasia, OMIM #146300
Review for gene: ALPL was set to GREEN
Added comment: Well established association with spectrum of disease severity.
Sources: Expert list
Calcium and Phosphate disorders v0.49 RET Chirag Patel Classified gene: RET as Green List (high evidence)
Calcium and Phosphate disorders v0.49 RET Chirag Patel Gene: ret has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.48 RET Chirag Patel gene: RET was added
gene: RET was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
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 list
Calcium and Phosphate disorders v0.47 MEN1 Chirag Patel Classified gene: MEN1 as Green List (high evidence)
Calcium and Phosphate disorders v0.47 MEN1 Chirag Patel Gene: men1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.47 MEN1 Chirag Patel Classified gene: MEN1 as Green List (high evidence)
Calcium and Phosphate disorders v0.47 MEN1 Chirag Patel Gene: men1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.46 MEN1 Chirag Patel gene: MEN1 was added
gene: MEN1 was added to Renal abnormalities of calcium and phosphate metabolism. Sources: 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
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
Calcium and Phosphate disorders v0.45 CDKN1B Chirag Patel Classified gene: CDKN1B as Green List (high evidence)
Calcium and Phosphate disorders v0.45 CDKN1B Chirag Patel Gene: cdkn1b has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.45 CDKN1B Chirag Patel Classified gene: CDKN1B as Green List (high evidence)
Calcium and Phosphate disorders v0.45 CDKN1B Chirag Patel Gene: cdkn1b has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.44 CDKN1B Chirag Patel gene: CDKN1B was added
gene: CDKN1B was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDKN1B were set to PMID: 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
Added comment: Well established association - >3 families reported
Sources: Expert list
Calcium and Phosphate disorders v0.43 GCM2 Chirag Patel Classified gene: GCM2 as Green List (high evidence)
Calcium and Phosphate disorders v0.43 GCM2 Chirag Patel Gene: gcm2 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.42 GCM2 Chirag Patel gene: GCM2 was added
gene: GCM2 was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: GCM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GCM2 were set to PMID: 27745835, 20190276, 34967908, 35038313
Phenotypes for gene: GCM2 were set to Hyperparathyroidism 4, OMIM #617343; Hypoparathyroidism, familial isolated 2, OMIM #618883
Review for gene: GCM2 was set to GREEN
Added comment: Well established association. GoF for AD hyperparathyroidism, and LoF for AR hypoparathyroidism
Sources: Expert list
Calcium and Phosphate disorders v0.41 SBDS Zornitza Stark Marked gene: SBDS as ready
Calcium and Phosphate disorders v0.41 SBDS Zornitza Stark Gene: sbds has been classified as Red List (Low Evidence).
Calcium and Phosphate disorders v0.41 SBDS Zornitza Stark Phenotypes for gene: SBDS were changed from to Shwachman-Diamond syndrome, MIM# 260400
Calcium and Phosphate disorders v0.40 SBDS Zornitza Stark Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.39 SBDS Chirag Patel Classified gene: SBDS as Red List (low evidence)
Calcium and Phosphate disorders v0.39 SBDS Chirag Patel Gene: sbds has been classified as Red List (Low Evidence).
Calcium and Phosphate disorders v0.39 SBDS Chirag Patel Classified gene: SBDS as Red List (low evidence)
Calcium and Phosphate disorders v0.39 SBDS Chirag Patel Gene: sbds has been classified as Red List (Low Evidence).
Calcium and Phosphate disorders v0.38 SBDS Chirag Patel reviewed gene: SBDS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Calcium and Phosphate disorders v0.38 CYP27B1 Zornitza Stark Tag treatable tag was added to gene: CYP27B1.
Calcium and Phosphate disorders v0.38 SLC34A3 Zornitza Stark Marked gene: SLC34A3 as ready
Calcium and Phosphate disorders v0.38 SLC34A3 Zornitza Stark Gene: slc34a3 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.38 SLC34A3 Zornitza Stark Phenotypes for gene: SLC34A3 were changed from to Hypophosphataemic rickets with hypercalciuria, (MIM#241530)
Calcium and Phosphate disorders v0.37 SLC34A3 Zornitza Stark Publications for gene: SLC34A3 were set to
Calcium and Phosphate disorders v0.36 SLC34A3 Zornitza Stark Mode of inheritance for gene: SLC34A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.35 SLC34A3 Zornitza Stark reviewed gene: SLC34A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32524022; Phenotypes: Hypophosphataemic rickets with hypercalciuria, (MIM#241530); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.35 STX16 Zornitza Stark Mode of inheritance for gene: STX16 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Calcium and Phosphate disorders v0.34 STX16 Zornitza Stark edited their review of gene: STX16: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Calcium and Phosphate disorders v0.34 FAM20A Zornitza Stark Marked gene: FAM20A as ready
Calcium and Phosphate disorders v0.34 FAM20A Zornitza Stark Gene: fam20a has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.34 FAM20A Zornitza Stark Phenotypes for gene: FAM20A were changed from to Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690
Calcium and Phosphate disorders v0.33 FAM20A Zornitza Stark Publications for gene: FAM20A were set to
Calcium and Phosphate disorders v0.32 FAM20A Zornitza Stark Mode of inheritance for gene: FAM20A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.31 FAM20A Zornitza Stark reviewed gene: FAM20A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23434854, 23697977, 23468644, 24756937, 21549343, 24259279, 24196488, 26502894, 25827751, 21990045; Phenotypes: Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690; Mode of inheritance: None
Calcium and Phosphate disorders v0.31 CYP24A1 Zornitza Stark Marked gene: CYP24A1 as ready
Calcium and Phosphate disorders v0.31 CYP24A1 Zornitza Stark Gene: cyp24a1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.31 CYP24A1 Zornitza Stark Phenotypes for gene: CYP24A1 were changed from to Hypercalcaemia, infantile, 1, MIM# 143880; MONDO:0020739
Calcium and Phosphate disorders v0.30 CYP24A1 Zornitza Stark Publications for gene: CYP24A1 were set to
Calcium and Phosphate disorders v0.29 CYP24A1 Zornitza Stark Mode of inheritance for gene: CYP24A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.28 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, MONDO:0020739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.28 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
Calcium and Phosphate disorders v0.27 AP2S1 Zornitza Stark edited their review of gene: AP2S1: Changed phenotypes: Hypocalciuric hypercalcaemia, type III, MIM# 600740, MONDO:0010926
Calcium and Phosphate disorders v0.27 AP2S1 Zornitza Stark Marked gene: AP2S1 as ready
Calcium and Phosphate disorders v0.27 AP2S1 Zornitza Stark Gene: ap2s1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.27 AP2S1 Zornitza Stark Phenotypes for gene: AP2S1 were changed from to Hypocalciuric hypercalcemia, type III, MIM# 600740; MONDO:0010926
Calcium and Phosphate disorders v0.26 AP2S1 Zornitza Stark Publications for gene: AP2S1 were set to
Calcium and Phosphate disorders v0.25 AP2S1 Zornitza Stark Mode of inheritance for gene: AP2S1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Calcium and Phosphate disorders v0.24 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
Calcium and Phosphate disorders v0.24 KL Bryony Thompson Marked gene: KL as ready
Calcium and Phosphate disorders v0.24 KL Bryony Thompson Gene: kl has been classified as Amber List (Moderate Evidence).
Calcium and Phosphate disorders v0.24 KL Bryony Thompson Publications for gene: KL were set to
Calcium and Phosphate disorders v0.23 KL Bryony Thompson Phenotypes for gene: KL were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994; Hyperphosphatemia
Calcium and Phosphate disorders v0.22 KL Bryony Thompson Mode of inheritance for gene: KL was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.21 KL Bryony Thompson Classified gene: KL as Amber List (moderate evidence)
Calcium and Phosphate disorders v0.21 KL Bryony Thompson Gene: kl has been classified as Amber List (Moderate Evidence).
Calcium and Phosphate disorders v0.20 KL Bryony Thompson reviewed gene: KL: Rating: AMBER; Mode of pathogenicity: None; Publications: 17710231, 31013726, 9363890; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994, Hyperphosphatemia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.20 PHEX Zornitza Stark Phenotypes for gene: PHEX were changed from Hypophosphatemic rickets, MIM#307800 to Hypophosphatemic rickets, MIM#307800
Calcium and Phosphate disorders v0.19 PHEX Zornitza Stark Marked gene: PHEX as ready
Calcium and Phosphate disorders v0.19 PHEX Zornitza Stark Gene: phex has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.19 PHEX Zornitza Stark Phenotypes for gene: PHEX were changed from to Hypophosphatemic rickets, MIM#307800
Calcium and Phosphate disorders v0.19 PHEX Zornitza Stark Mode of inheritance for gene: PHEX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Calcium and Phosphate disorders v0.18 PHEX Zornitza Stark reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatemic rickets, MIM#307800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Calcium and Phosphate disorders v0.18 GNAS Zornitza Stark Marked gene: GNAS as ready
Calcium and Phosphate disorders v0.18 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.18 GNAS Zornitza Stark Classified gene: GNAS as Green List (high evidence)
Calcium and Phosphate disorders v0.18 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.17 GNAS Zornitza Stark Classified gene: GNAS as Green List (high evidence)
Calcium and Phosphate disorders v0.17 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.16 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ia, MIM# 103580
Review for gene: GNAS was set to GREEN
Added comment: Sources: Expert list
Calcium and Phosphate disorders v0.15 STX16 Zornitza Stark Classified gene: STX16 as Green List (high evidence)
Calcium and Phosphate disorders v0.15 STX16 Zornitza Stark Gene: stx16 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.14 STX16 Zornitza Stark Marked gene: STX16 as ready
Calcium and Phosphate disorders v0.14 STX16 Zornitza Stark Gene: stx16 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.14 STX16 Zornitza Stark Classified gene: STX16 as Green List (high evidence)
Calcium and Phosphate disorders v0.14 STX16 Zornitza Stark Gene: stx16 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.13 STX16 Zornitza Stark Tag SV/CNV tag was added to gene: STX16.
Calcium and Phosphate disorders v0.13 STX16 Zornitza Stark gene: STX16 was added
gene: STX16 was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STX16 were set to 14561710; 15579741; 27338644; 24438374
Phenotypes for gene: STX16 were set to Pseudohypoparathyroidism, type IB, MIM#603233
Review for gene: STX16 was set to GREEN
Added comment: Note multiple cases reported of recurrent 3-4kb deletion.
Sources: Expert list
Calcium and Phosphate disorders v0.12 SLC9A3R1 Zornitza Stark Mode of inheritance for gene: SLC9A3R1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Calcium and Phosphate disorders v0.11 SLC9A3R1 Zornitza Stark Marked gene: SLC9A3R1 as ready
Calcium and Phosphate disorders v0.11 SLC9A3R1 Zornitza Stark Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Calcium and Phosphate disorders v0.11 SLC9A3R1 Zornitza Stark Mode of inheritance for gene: SLC9A3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Calcium and Phosphate disorders v0.11 SLC9A3R1 Zornitza Stark Phenotypes for gene: SLC9A3R1 were changed from Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287 to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
Calcium and Phosphate disorders v0.10 SLC9A3R1 Zornitza Stark Phenotypes for gene: SLC9A3R1 were changed from to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
Calcium and Phosphate disorders v0.9 SLC9A3R1 Zornitza Stark Publications for gene: SLC9A3R1 were set to
Calcium and Phosphate disorders v0.8 SLC9A3R1 Zornitza Stark Classified gene: SLC9A3R1 as Red List (low evidence)
Calcium and Phosphate disorders v0.8 SLC9A3R1 Zornitza Stark Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Calcium and Phosphate disorders v0.7 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
Calcium and Phosphate disorders v0.7 Zornitza Stark Panel name changed from Renal abnormalities of calcium and phosphate metabolism_KidGen_VCGS to Renal abnormalities of calcium and phosphate metabolism
Panel types changed to Victorian Clinical Genetics Services; KidGen
Calcium and Phosphate disorders v0.6 Zornitza Stark Panel name changed from Abnormalities of renal calcium and phosphate metabolism_KidGen_VCGS to Renal abnormalities of calcium and phosphate metabolism_KidGen_VCGS
Calcium and Phosphate disorders v0.5 Zornitza Stark removed gene:AHI1 from the panel
Calcium and Phosphate disorders v0.4 Zornitza Stark Panel name changed from Abnormalities of renal calcium and phosphate metabolism_KidGen to Abnormalities of renal calcium and phosphate metabolism_KidGen_VCGS
Calcium and Phosphate disorders v0.3 ADCY10 Zornitza Stark Marked gene: ADCY10 as ready
Calcium and Phosphate disorders v0.3 ADCY10 Zornitza Stark Gene: adcy10 has been classified as Amber List (Moderate Evidence).
Calcium and Phosphate disorders v0.3 ADCY10 Zornitza Stark Classified gene: ADCY10 as Amber List (moderate evidence)
Calcium and Phosphate disorders v0.3 ADCY10 Zornitza Stark Gene: adcy10 has been classified as Amber List (Moderate Evidence).
Calcium and Phosphate disorders v0.2 ADCY10 Zornitza Stark gene: ADCY10 was added
gene: ADCY10 was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: Expert list
Mode of inheritance for gene: ADCY10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADCY10 were set to 11932268
Phenotypes for gene: ADCY10 were set to Hypercalciuria, absorptive, susceptibility to, MIM#143870
Review for gene: ADCY10 was set to AMBER
gene: ADCY10 was marked as current diagnostic
Added comment: Association study only
Sources: Expert list
Calcium and Phosphate disorders v0.1 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Calcium and Phosphate disorders v0.1 AHI1 Zornitza Stark Gene: ahi1 has been classified as Red List (Low Evidence).
Calcium and Phosphate disorders v0.1 AHI1 Zornitza Stark Classified gene: AHI1 as Red List (low evidence)
Calcium and Phosphate disorders v0.1 AHI1 Zornitza Stark Gene: ahi1 has been classified as Red List (Low Evidence).
Calcium and Phosphate disorders v0.0 AHI1 Zornitza Stark reviewed gene: AHI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Calcium and Phosphate disorders v0.0 AHI1 Zornitza Stark gene: AHI1 was added
gene: AHI1 was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: AHI1 was set to Unknown
Calcium and Phosphate disorders v0.0 VDR Zornitza Stark gene: VDR was added
gene: VDR was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: VDR was set to Unknown
Calcium and Phosphate disorders v0.0 SLC9A3R1 Zornitza Stark gene: SLC9A3R1 was added
gene: SLC9A3R1 was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC9A3R1 was set to Unknown
Calcium and Phosphate disorders v0.0 SLC34A3 Zornitza Stark gene: SLC34A3 was added
gene: SLC34A3 was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC34A3 was set to Unknown
Calcium and Phosphate disorders v0.0 SLC34A1 Zornitza Stark gene: SLC34A1 was added
gene: SLC34A1 was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC34A1 was set to Unknown
Calcium and Phosphate disorders v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: SBDS was set to Unknown
Calcium and Phosphate disorders v0.0 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: PTH1R was set to Unknown
Calcium and Phosphate disorders v0.0 PHEX Zornitza Stark gene: PHEX was added
gene: PHEX was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: PHEX was set to Unknown
Calcium and Phosphate disorders v0.0 KL Zornitza Stark gene: KL was added
gene: KL was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: KL was set to Unknown
Calcium and Phosphate disorders v0.0 GNA11 Zornitza Stark gene: GNA11 was added
gene: GNA11 was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: GNA11 was set to Unknown
Calcium and Phosphate disorders v0.0 GALNT3 Zornitza Stark gene: GALNT3 was added
gene: GALNT3 was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: GALNT3 was set to Unknown
Calcium and Phosphate disorders v0.0 FGF23 Zornitza Stark gene: FGF23 was added
gene: FGF23 was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: FGF23 was set to Unknown
Calcium and Phosphate disorders v0.0 FAM20A Zornitza Stark gene: FAM20A was added
gene: FAM20A was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: FAM20A was set to Unknown
Calcium and Phosphate disorders v0.0 FAM111A Zornitza Stark gene: FAM111A was added
gene: FAM111A was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: FAM111A was set to Unknown
Calcium and Phosphate disorders v0.0 ENPP1 Zornitza Stark gene: ENPP1 was added
gene: ENPP1 was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: ENPP1 was set to Unknown
Calcium and Phosphate disorders v0.0 DMP1 Zornitza Stark gene: DMP1 was added
gene: DMP1 was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: DMP1 was set to Unknown
Calcium and Phosphate disorders v0.0 CYP2R1 Zornitza Stark gene: CYP2R1 was added
gene: CYP2R1 was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: CYP2R1 was set to Unknown
Calcium and Phosphate disorders v0.0 CYP27B1 Zornitza Stark gene: CYP27B1 was added
gene: CYP27B1 was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: CYP27B1 was set to Unknown
Calcium and Phosphate disorders v0.0 CYP24A1 Zornitza Stark gene: CYP24A1 was added
gene: CYP24A1 was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: CYP24A1 was set to Unknown
Calcium and Phosphate disorders v0.0 CDC73 Zornitza Stark gene: CDC73 was added
gene: CDC73 was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: CDC73 was set to Unknown
Calcium and Phosphate disorders v0.0 CASR Zornitza Stark gene: CASR was added
gene: CASR was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: CASR was set to Unknown
Calcium and Phosphate disorders v0.0 AP2S1 Zornitza Stark gene: AP2S1 was added
gene: AP2S1 was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: AP2S1 was set to Unknown
Calcium and Phosphate disorders v0.0 Zornitza Stark Added panel Abnormalities of renal calcium and phosphate metabolism_KidGen