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Hypophosphataemia or rickets v0.52 Chirag Patel Panel status changed from retired to public
Hypophosphataemia or rickets v0.51 Chirag Patel Panel name changed from Hypophosphataemia and rickets to Hypophosphataemia or rickets
Hypophosphataemia or rickets v0.50 Chirag Patel Panel name changed from Hypophosphataemia or rickets to Hypophosphataemia and rickets
Hypophosphataemia or rickets v0.49 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease
Hypophosphataemia or rickets v0.48 VDR Chirag Patel Source Victorian Clinical Genetics Services was removed from VDR.
Source Expert List was added to VDR.
Mode of inheritance for gene VDR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VDR were changed from to Rickets, vitamin D-resistant, type IIA, MIM# 277440
Publications for gene VDR were changed from 2849209, 9005998, 17970811 to 2849209, 9005998, 17970811
Hypophosphataemia or rickets v0.47 VDR Chirag Patel reviewed gene: VDR: Rating: GREEN; Mode of pathogenicity: None; Publications: 2849209, 9005998, 17970811; Phenotypes: Rickets, vitamin D-resistant, type IIA, MIM# 277440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.47 SLC34A1 Chirag Patel Source Victorian Clinical Genetics Services was removed from SLC34A1.
Source Expert List was added to SLC34A1.
Mode of inheritance for gene SLC34A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A1 were changed from to Nephrolithiasis/osteoporosis, hypophosphatemic, 1, MIM#612286
Publications for gene SLC34A1 were changed from 12324554, 25050900, 9560283 to 12324554, 25050900, 9560283
Hypophosphataemia or rickets v0.46 SLC34A1 Chirag Patel reviewed gene: SLC34A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12324554, 25050900, 9560283; Phenotypes: Nephrolithiasis/osteoporosis, hypophosphatemic, 1, MIM#612286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.46 FGF23 Chirag Patel Source Victorian Clinical Genetics Services was removed from FGF23.
Source Expert List was added to FGF23.
Mode of inheritance for gene FGF23 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene FGF23 was changed from to Other
Phenotypes for gene: FGF23 were changed from to Autosomal dominant hypophosphatemic rickets MONDO:0008660
Publications for gene FGF23 were changed from 11062477, 34444516 to 11062477, 34444516
Hypophosphataemia or rickets v0.45 FGF23 Chirag Patel reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11062477, 34444516; Phenotypes: Autosomal dominant hypophosphatemic rickets MONDO:0008660; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypophosphataemia or rickets v0.45 CYP27B1 Chirag Patel Source Victorian Clinical Genetics Services was removed from CYP27B1.
Source Expert List was added to CYP27B1.
Mode of inheritance for gene CYP27B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27B1 were changed from to Vitamin D-dependent rickets, type I MIM#264700
Publications for gene CYP27B1 were changed from 9486994, 9415400, 12050193, 27473561, 34492747, 33823104 to 9486994, 9415400, 12050193, 27473561, 34492747, 33823104
Hypophosphataemia or rickets v0.44 CYP27B1 Chirag Patel reviewed gene: CYP27B1: Rating: ; Mode of pathogenicity: None; Publications: 9486994, 9415400, 12050193, 27473561, 34492747, 33823104; Phenotypes: Vitamin D-dependent rickets, type I MIM#264700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.44 DMP1 Chirag Patel Source Victorian Clinical Genetics Services was removed from DMP1.
Source Expert List was added to DMP1.
Mode of inheritance for gene DMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DMP1 were changed from to Hypophosphatemic rickets MIM#241520
Publications for gene DMP1 were changed from 17033625, 22695891, 20213538, 17033621, 32920683, 15590631 to 17033625, 22695891, 20213538, 17033621, 32920683, 15590631
Hypophosphataemia or rickets v0.43 DMP1 Chirag Patel reviewed gene: DMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033625, 22695891, 20213538, 17033621, 32920683, 15590631; Phenotypes: Hypophosphatemic rickets MIM#241520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.43 Chirag Patel Copied gene SLC9A3R1 from panel Calcium and Phosphate disorders
Hypophosphataemia or rickets v0.43 SLC9A3R1 Chirag Patel gene: SLC9A3R1 was added
gene: SLC9A3R1 was added to Hypophosphataemia or rickets. Sources: Expert Review Red,KidGen_CalcPhos v38.1.0
Mode of inheritance for gene: SLC9A3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC9A3R1 were set to 18784102
Phenotypes for gene: SLC9A3R1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
Hypophosphataemia or rickets v0.42 Chirag Patel Panel name changed from Hypophosphataemic Rickets to Hypophosphataemia or rickets
Hypophosphataemia or rickets v0.41 CYP3A4 Chirag Patel Classified gene: CYP3A4 as Amber List (moderate evidence)
Hypophosphataemia or rickets v0.41 CYP3A4 Chirag Patel Gene: cyp3a4 has been classified as Amber List (Moderate Evidence).
Hypophosphataemia or rickets v0.40 CYP3A4 Chirag Patel Classified gene: CYP3A4 as Red List (low evidence)
Hypophosphataemia or rickets v0.40 CYP3A4 Chirag Patel Gene: cyp3a4 has been classified as Red List (Low Evidence).
Hypophosphataemia or rickets v0.39 CYP3A4 Chirag Patel gene: CYP3A4 was added
gene: CYP3A4 was added to Hypophosphataemic Rickets. Sources: Expert Review
Mode of inheritance for gene: CYP3A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYP3A4 were set to PMID: 38179381, 29461981, 36656330
Phenotypes for gene: CYP3A4 were set to Vitamin D-dependent rickets, type 3, MIM#619073
Review for gene: CYP3A4 was set to AMBER
Added comment: Vitamin D-dependent rickets-3 (VDDR3) is characterized by early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, hypocalcaemia and hypophosphataemia. 4 cases reported with the same missense variant (I301T).

Roizen et al 2018 (PMID 29461981)
2 unrelated females (European and Middle Eastern ancestry) with vitamin D deficient rickets.
WES identified the same missense variant (I301T) in both individuals.

Mantoanelli et al 2023 (PMID 36656330)
1 individual with poor growth and bone deformities (i.e. rickets) with no family history, and the same missense variant (I301T).

Al-Ashwal et al 2023 (PMID 38179381)
1 individual (Middle Eastern ancestry) with poor growth, bone deformities (e.g. rickets, genu valgum), reduced 25-hydroxyvitamin, hypocalcaemia and normal phosphate. WES identified the same missense variant (I301T). She had a strong family history of rickets, but segregation not reported.
Sources: Expert Review
Hypophosphataemia or rickets v0.38 Bryony Thompson Panel status changed from public to retired
Hypophosphataemia or rickets v0.37 CLCN5 Zornitza Stark Classified gene: CLCN5 as Green List (high evidence)
Hypophosphataemia or rickets v0.37 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.36 CLCN5 Krithika Murali reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatemic rickets, MIM# 300554; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Hypophosphataemia or rickets v0.36 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
Hypophosphataemia or rickets v0.36 CYP27B1 Zornitza Stark Tag treatable tag was added to gene: CYP27B1.
Hypophosphataemia or rickets v0.36 CTNS Zornitza Stark Tag treatable tag was added to gene: CTNS.
Hypophosphataemia or rickets v0.36 ALPL Zornitza Stark Tag treatable tag was added to gene: ALPL.
Hypophosphataemia or rickets v0.36 FAH Bryony Thompson Phenotypes for gene: FAH were changed from to Tyrosinemia, type I, MIM# 276700
Hypophosphataemia or rickets v0.35 FAH Bryony Thompson Mode of inheritance for gene: FAH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.34 ENPP1 Zornitza Stark Marked gene: ENPP1 as ready
Hypophosphataemia or rickets v0.34 ENPP1 Zornitza Stark Gene: enpp1 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.34 ENPP1 Zornitza Stark Phenotypes for gene: ENPP1 were changed from to Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
Hypophosphataemia or rickets v0.33 ENPP1 Zornitza Stark Publications for gene: ENPP1 were set to
Hypophosphataemia or rickets v0.32 ENPP1 Zornitza Stark Mode of inheritance for gene: ENPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.31 ENPP1 Zornitza Stark reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20016754, 20137773, 20137772; Phenotypes: Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.31 KL Bryony Thompson Publications for gene: KL were set to 18308935
Hypophosphataemia or rickets v0.30 KL Bryony Thompson Classified gene: KL as Amber List (moderate evidence)
Hypophosphataemia or rickets v0.30 KL Bryony Thompson Gene: kl has been classified as Amber List (Moderate Evidence).
Hypophosphataemia or rickets v0.29 KL Bryony Thompson edited their review of gene: KL: Added comment: 1 case reported with tumoral calcinosis and a homozygous missense, and 1 adult case reported with chronic kidney disease and hyperphosphatemia and a heterozygous frameshift variant. Also, supporting null mouse model.; Changed rating: AMBER; Changed publications: 18308935, 17710231, 31013726, 9363890; Changed phenotypes: Hypophosphatemic rickets, hyperparathyroidism, Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994, Hyperphosphatemia; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.28 CTNS Bryony Thompson Marked gene: CTNS as ready
Hypophosphataemia or rickets v0.28 CTNS Bryony Thompson Gene: ctns has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.28 CTNS Bryony Thompson Classified gene: CTNS as Green List (high evidence)
Hypophosphataemia or rickets v0.28 CTNS Bryony Thompson Gene: ctns has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.27 CTNS Bryony Thompson gene: CTNS was added
gene: CTNS was added to Hypophosphataemic Rickets. Sources: Expert list
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNS were set to 20301574; 9537412; 31068690
Phenotypes for gene: CTNS were set to Cystinosis, nephropathic MIM#219800
Review for gene: CTNS was set to GREEN
gene: CTNS was marked as current diagnostic
Added comment: Hypophosphatemic rickets is a prominent feature of cystinosis when untreated.
Sources: Expert list
Hypophosphataemia or rickets v0.26 SGK3 Bryony Thompson Marked gene: SGK3 as ready
Hypophosphataemia or rickets v0.26 SGK3 Bryony Thompson Gene: sgk3 has been classified as Red List (Low Evidence).
Hypophosphataemia or rickets v0.26 SGK3 Bryony Thompson reviewed gene: SGK3: Rating: RED; Mode of pathogenicity: None; Publications: 31821448; Phenotypes: Hypophosphatemic rickets; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypophosphataemia or rickets v0.26 SLC34A3 Zornitza Stark Marked gene: SLC34A3 as ready
Hypophosphataemia or rickets v0.26 SLC34A3 Zornitza Stark Gene: slc34a3 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.26 SLC34A3 Zornitza Stark Phenotypes for gene: SLC34A3 were changed from to Hypophosphataemic rickets with hypercalciuria, (MIM#241530)
Hypophosphataemia or rickets v0.25 SLC34A3 Zornitza Stark Publications for gene: SLC34A3 were set to
Hypophosphataemia or rickets v0.24 SLC34A3 Zornitza Stark Mode of inheritance for gene: SLC34A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.23 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
Hypophosphataemia or rickets v0.23 KL Bryony Thompson Publications for gene: KL were set to
Hypophosphataemia or rickets v0.22 KL Bryony Thompson Deleted their comment
Hypophosphataemia or rickets v0.22 KL Bryony Thompson edited their review of gene: KL: Added comment: A single case with a de novo translocation with a breakpoint adjacent to KL, markedly increasing plasma alpha-Klotho levels and beta-glucuronidase activity.; Changed publications: 18308935; Changed phenotypes: Hypophosphatemic rickets, hyperparathyroidism; Changed mode of inheritance: Unknown
Hypophosphataemia or rickets v0.22 PHEX Zornitza Stark Marked gene: PHEX as ready
Hypophosphataemia or rickets v0.22 PHEX Zornitza Stark Gene: phex has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.22 PHEX Zornitza Stark Tag SV/CNV tag was added to gene: PHEX.
Hypophosphataemia or rickets v0.21 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Hypophosphataemia or rickets v0.20 OCRL Zornitza Stark Marked gene: OCRL as ready
Hypophosphataemia or rickets v0.20 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.20 OCRL Zornitza Stark Phenotypes for gene: OCRL were changed from to Lowe syndrome, MIM# 309000
Hypophosphataemia or rickets v0.19 OCRL Zornitza Stark Publications for gene: OCRL were set to
Hypophosphataemia or rickets v0.18 OCRL Zornitza Stark Mode of inheritance for gene: OCRL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hypophosphataemia or rickets v0.17 OCRL Zornitza Stark reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19773212; Phenotypes: Lowe syndrome, MIM# 309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hypophosphataemia or rickets v0.17 FAM20C Zornitza Stark Marked gene: FAM20C as ready
Hypophosphataemia or rickets v0.17 FAM20C Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.17 FAM20C Zornitza Stark Classified gene: FAM20C as Green List (high evidence)
Hypophosphataemia or rickets v0.17 FAM20C Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.16 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Hypophosphataemic Rickets. 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
Hypophosphataemia or rickets v0.15 FAH Zornitza Stark reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tyrosinemia, type I, MIM# 276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.15 SGK3 Zornitza Stark gene: SGK3 was added
gene: SGK3 was added to Hypophosphataemic Rickets. 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
Phenotypes for gene: SGK3 were set to Hypophosphatemic rickets
Review for gene: SGK3 was set to RED
Added comment: 5 individuals from one family where a splice site variant segregated with disease.
Sources: Literature
Hypophosphataemia or rickets v0.14 CLCN5 Zornitza Stark Marked gene: CLCN5 as ready
Hypophosphataemia or rickets v0.14 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Amber List (Moderate Evidence).
Hypophosphataemia or rickets v0.14 CLCN5 Zornitza Stark Phenotypes for gene: CLCN5 were changed from to Hypophosphatemic rickets, MIM# 300554
Hypophosphataemia or rickets v0.13 CLCN5 Zornitza Stark Publications for gene: CLCN5 were set to
Hypophosphataemia or rickets v0.12 CLCN5 Zornitza Stark Mode of inheritance for gene: CLCN5 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hypophosphataemia or rickets v0.11 CLCN5 Zornitza Stark Classified gene: CLCN5 as Amber List (moderate evidence)
Hypophosphataemia or rickets v0.11 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Amber List (Moderate Evidence).
Hypophosphataemia or rickets v0.10 CLCN5 Zornitza Stark reviewed gene: CLCN5: Rating: AMBER; Mode of pathogenicity: None; Publications: 8559248, 9596078; Phenotypes: Hypophosphatemic rickets, MIM# 300554; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hypophosphataemia or rickets v0.10 ALPL Zornitza Stark Marked gene: ALPL as ready
Hypophosphataemia or rickets v0.10 ALPL Zornitza Stark Gene: alpl has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.10 ALPL Zornitza Stark Phenotypes for gene: ALPL were changed from to Hypophosphatasia, infantile, MIM# 241500
Hypophosphataemia or rickets v0.9 ALPL Zornitza Stark Mode of inheritance for gene: ALPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.8 ALPL Zornitza Stark reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatasia, infantile, MIM# 241500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.8 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital
Hypophosphataemia or rickets v0.7 KL Bryony Thompson Marked gene: KL as ready
Hypophosphataemia or rickets v0.7 KL Bryony Thompson Gene: kl has been classified as Red List (Low Evidence).
Hypophosphataemia or rickets v0.7 KL Bryony Thompson Classified gene: KL as Red List (low evidence)
Hypophosphataemia or rickets v0.7 KL Bryony Thompson Gene: kl has been classified as Red List (Low Evidence).
Hypophosphataemia or rickets v0.6 KL Bryony Thompson reviewed gene: KL: Rating: RED; Mode of pathogenicity: None; Publications: 17710231; Phenotypes: ?Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.6 CYP2R1 Bryony Thompson Marked gene: CYP2R1 as ready
Hypophosphataemia or rickets v0.6 CYP2R1 Bryony Thompson Gene: cyp2r1 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.6 CYP2R1 Bryony Thompson Classified gene: CYP2R1 as Green List (high evidence)
Hypophosphataemia or rickets v0.6 CYP2R1 Bryony Thompson Gene: cyp2r1 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.5 CYP2R1 Bryony Thompson gene: CYP2R1 was added
gene: CYP2R1 was added to Hypophosphataemic Rickets. Sources: Expert list
Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2R1 were set to 15128933; 28548312
Phenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation MIM#600081
Review for gene: CYP2R1 was set to GREEN
gene: CYP2R1 was marked as current diagnostic
Added comment: At least 6 families with biallelic variants.
Sources: Expert list
Hypophosphataemia or rickets v0.4 PHEX Zornitza Stark Marked gene: PHEX as ready
Hypophosphataemia or rickets v0.4 PHEX Zornitza Stark Gene: phex has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.4 PHEX Zornitza Stark Phenotypes for gene: PHEX were changed from to Hypophosphatemic rickets, MIM#307800
Hypophosphataemia or rickets v0.3 PHEX Zornitza Stark Publications for gene: PHEX were set to
Hypophosphataemia or rickets v0.2 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)
Hypophosphataemia or rickets v0.1 PHEX Teresa Zhao reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12727977, 30682568; Phenotypes: Hypophosphatemic rickets; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Hypophosphataemia or rickets v0.1 Zornitza Stark Panel name changed from Hypophosphataemic Rickets_VCGS to Hypophosphataemic Rickets
Panel types changed to Victorian Clinical Genetics Services
Hypophosphataemia or rickets v0.0 VDR Zornitza Stark gene: VDR was added
gene: VDR was added to Hypophosphataemic Rickets_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VDR was set to Unknown
Hypophosphataemia or rickets v0.0 SLC34A3 Zornitza Stark gene: SLC34A3 was added
gene: SLC34A3 was added to Hypophosphataemic Rickets_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC34A3 was set to Unknown
Hypophosphataemia or rickets v0.0 SLC34A1 Zornitza Stark gene: SLC34A1 was added
gene: SLC34A1 was added to Hypophosphataemic Rickets_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC34A1 was set to Unknown
Hypophosphataemia or rickets v0.0 PHEX Zornitza Stark gene: PHEX was added
gene: PHEX was added to Hypophosphataemic Rickets_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PHEX was set to Unknown
Hypophosphataemia or rickets v0.0 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Hypophosphataemic Rickets_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OCRL was set to Unknown
Hypophosphataemia or rickets v0.0 KL Zornitza Stark gene: KL was added
gene: KL was added to Hypophosphataemic Rickets_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KL was set to Unknown
Hypophosphataemia or rickets v0.0 FGF23 Zornitza Stark gene: FGF23 was added
gene: FGF23 was added to Hypophosphataemic Rickets_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGF23 was set to Unknown
Hypophosphataemia or rickets v0.0 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to Hypophosphataemic Rickets_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FAH was set to Unknown
Hypophosphataemia or rickets v0.0 ENPP1 Zornitza Stark gene: ENPP1 was added
gene: ENPP1 was added to Hypophosphataemic Rickets_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ENPP1 was set to Unknown
Hypophosphataemia or rickets v0.0 DMP1 Zornitza Stark gene: DMP1 was added
gene: DMP1 was added to Hypophosphataemic Rickets_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DMP1 was set to Unknown
Hypophosphataemia or rickets v0.0 CYP27B1 Zornitza Stark gene: CYP27B1 was added
gene: CYP27B1 was added to Hypophosphataemic Rickets_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYP27B1 was set to Unknown
Hypophosphataemia or rickets v0.0 CLCN5 Zornitza Stark gene: CLCN5 was added
gene: CLCN5 was added to Hypophosphataemic Rickets_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLCN5 was set to Unknown
Hypophosphataemia or rickets v0.0 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to Hypophosphataemic Rickets_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALPL was set to Unknown
Hypophosphataemia or rickets v0.0 Zornitza Stark Added panel Hypophosphataemic Rickets_VCGS