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Hypophosphataemia or rickets v3.1 SLC9A3R1 Eleanor Williams commented on gene: SLC9A3R1
Hypophosphataemia or rickets v3.1 SLC9A3R1 Eleanor Williams Tag new-gene-name tag was added to gene: SLC9A3R1.
Hypophosphataemia or rickets v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2022-11-30
Hypophosphataemia or rickets v3.0 Eleanor Williams promoted panel to version 3.0
Hypophosphataemia or rickets v2.16 OCRL Ivone Leong Tag for-review was removed from gene: OCRL.
Hypophosphataemia or rickets v2.16 ALPL Ivone Leong Tag for-review was removed from gene: ALPL.
Hypophosphataemia or rickets v2.16 ALPL Ivone Leong commented on gene: ALPL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hypophosphataemia or rickets v2.16 OCRL Ivone Leong commented on gene: OCRL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hypophosphataemia or rickets v2.15 ALPL Ivone Leong Source Expert Review Green was added to ALPL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypophosphataemia or rickets v2.15 OCRL Ivone Leong Source Expert Review Green was added to OCRL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypophosphataemia or rickets v2.14 FAH Ivone Leong Tag to_be_confirmed_NHSE tag was added to gene: FAH.
Hypophosphataemia or rickets v2.14 FAH Ivone Leong Classified gene: FAH as Amber List (moderate evidence)
Hypophosphataemia or rickets v2.14 FAH Ivone Leong Added comment: Comment on list classification: This gene is associated with an appropriate phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association.

FAH causes type I tyrosinemia and hypophosphataemic rickets is a feature of chronic disease, but patients present with liver phenotypes at the beginning before developing hypophosphataemic rickets. After consultation with the Genomics England Clinical Team, I have given this gene an Amber gene rating and tagged with "for-review" so that GMS experts can consider this gene in the scope of testing for the next iteration.

This gene is already Green on Undiagnosed metabolic disorders (v1.431) and Inborn errors of metabolism (v2.33) panels
Hypophosphataemia or rickets v2.14 FAH Ivone Leong Gene: fah has been classified as Amber List (Moderate Evidence).
Hypophosphataemia or rickets v2.13 FAH Ivone Leong Tag for-review tag was added to gene: FAH.
Hypophosphataemia or rickets v2.13 FAH Ivone Leong Phenotypes for gene: FAH were changed from Tyrosinemia, type I, 276700 to Tyrosinemia, type I, OMIM:276700, MONDO:0010161
Hypophosphataemia or rickets v2.12 ALPL Ivone Leong Tag for-review tag was added to gene: ALPL.
Hypophosphataemia or rickets v2.12 ALPL Ivone Leong Classified gene: ALPL as Amber List (moderate evidence)
Hypophosphataemia or rickets v2.12 ALPL Ivone Leong Added comment: Comment on list classification: This gene is associated with an appropriate phenotype in OMIM and Gene2Phenotype and there is enough evidence to support a gene-disease association. However, phosphate levels in the blood is normal for this phenotype. After consultation with the Genomics England Clinical Team, I have given this gene an Amber gene rating and tagged with "for-review" so that GMS experts can consider this gene in the scope of testing for the next iteration.
Hypophosphataemia or rickets v2.12 ALPL Ivone Leong Gene: alpl has been classified as Amber List (Moderate Evidence).
Hypophosphataemia or rickets v2.11 ALPL Ivone Leong Phenotypes for gene: ALPL were changed from Hypophosphatasia, infantile, 241500; Hypophosphatasia, childhood, 241500 to Hypophosphatasia, infantile, OMIM:241500, MONDO:0009427; Hypophosphatasia, childhood, OMIM:241500, MONDO:0009428
Hypophosphataemia or rickets v2.10 OCRL Ivone Leong Tag for-review tag was added to gene: OCRL.
Hypophosphataemia or rickets v2.10 OCRL Ivone Leong Classified gene: OCRL as Amber List (moderate evidence)
Hypophosphataemia or rickets v2.10 OCRL Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is even evidence to support a gene-disease assocation and therefore this gene should be rated Green for this panel. It has been given an Amber rating for now until the next major review of this panel.
Hypophosphataemia or rickets v2.10 OCRL Ivone Leong Gene: ocrl has been classified as Amber List (Moderate Evidence).
Hypophosphataemia or rickets v2.9 OCRL Ivone Leong Phenotypes for gene: OCRL were changed from Lowe syndrome, MIM# 309000 to Lowe syndrome, 309000
Hypophosphataemia or rickets v2.8 FAH Ivone Leong Phenotypes for gene: FAH were changed from Tyrosinemia, type I, MIM# 276700 to Tyrosinemia, type I, 276700
Hypophosphataemia or rickets v2.7 ALPL Ivone Leong Phenotypes for gene: ALPL were changed from Hypophosphatasia, infantile, MIM# 241500 to Hypophosphatasia, infantile, 241500; Hypophosphatasia, childhood, 241500
Hypophosphataemia or rickets v2.6 SGK3 Ivone Leong Classified gene: SGK3 as Red List (low evidence)
Hypophosphataemia or rickets v2.6 SGK3 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. As there is only 1 case there is not enough evidence to support a gene-disease assocation. This gene has been given a Red review.
Hypophosphataemia or rickets v2.6 SGK3 Ivone Leong Gene: sgk3 has been classified as Red List (Low Evidence).
Hypophosphataemia or rickets v2.5 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Hypophosphataemia or rickets. Sources: Expert list
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OCRL were set to 19773212
Phenotypes for gene: OCRL were set to Lowe syndrome, MIM# 309000
Review for gene: OCRL was set to GREEN
Added comment: Renal rickets is a complication of Lowe syndrome.
Sources: Expert list
Hypophosphataemia or rickets v2.5 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to Hypophosphataemia or rickets. 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
Hypophosphataemia or rickets v2.5 SGK3 Zornitza Stark gene: SGK3 was added
gene: SGK3 was added to Hypophosphataemia or 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 v2.5 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to Hypophosphataemia or rickets. Sources: Expert list
Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALPL were set to Hypophosphatasia, infantile, MIM# 241500
Review for gene: ALPL was set to GREEN
Added comment: Fractures, poor mineralisation, rachitic rosary.
Sources: Expert list
Hypophosphataemia or rickets v2.5 CLCN5 Ivone Leong Publications for gene: CLCN5 were set to 28383812; 9187673
Hypophosphataemia or rickets v2.4 CLCN5 Martina Owens changed review comment from: Variants in this gene cause Dent disease - Oudet et al 1997 (PMID: 9187673) - family with four brothers presenting low molecular weight proteinuria, dramatic hypercalciuria and hypophosphataemic rickets. Morimoto et al 1998 (PMID: 9596078) - all patients had low molecular weight proteinuria (LMWP). LMWP is the pathognomonic finding of Dent disease, therfore possible that these patients will be tested using the Proteinuric renal disease panel. 60% patients with Dent disease have variant in this gene (NB. 15% of Dent patients have variants in the OCRL gene and this gene should be considerd for addition to the Proteinuric renal disease panel).; to: Variants in this gene cause Dent disease - Oudet et al 1997 (PMID: 9187673) - family with four brothers presenting low molecular weight proteinuria, dramatic hypercalciuria and hypophosphataemic rickets. Morimoto et al 1998 (PMID: 9596078) - all patients had low molecular weight proteinuria (LMWP). LMWP is the pathognomonic finding of Dent disease, therfore possible that these patients will be tested using the Proteinuric renal disease panel. 60% patients with Dent disease have variant in this gene (NB. 15% of Dent patients have variants in the OCRL gene and this gene should be considered for addition to the Proteinuric renal disease panel).
Hypophosphataemia or rickets v2.3 Catherine Snow Panel version has been signed off
Hypophosphataemia or rickets v2.0 Ivone Leong promoted panel to version 2.0
Hypophosphataemia or rickets v1.3 Ivone Leong List of related panels changed from to R154
Hypophosphataemia or rickets v1.2 Ivone Leong Panel types changed to GMS Rare Disease Virtual; GMS signed-off
Hypophosphataemia or rickets v1.0 Ivone Leong promoted panel to version 1.0
Hypophosphataemia or rickets v0.34 VDR Ivone Leong Marked gene: VDR as ready
Hypophosphataemia or rickets v0.34 VDR Ivone Leong Gene: vdr has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.34 SLC34A1 Ivone Leong Marked gene: SLC34A1 as ready
Hypophosphataemia or rickets v0.34 SLC34A1 Ivone Leong Gene: slc34a1 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.34 FAM20C Ivone Leong Marked gene: FAM20C as ready
Hypophosphataemia or rickets v0.34 FAM20C Ivone Leong Gene: fam20c has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.34 CYP2R1 Ivone Leong Marked gene: CYP2R1 as ready
Hypophosphataemia or rickets v0.34 CYP2R1 Ivone Leong Gene: cyp2r1 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.34 CYP27B1 Ivone Leong Marked gene: CYP27B1 as ready
Hypophosphataemia or rickets v0.34 CYP27B1 Ivone Leong Gene: cyp27b1 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.34 CYP3A4 Ivone Leong commented on gene: CYP3A4: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is insufficient evidence to rate this gene as green. So will remain as amber.
Hypophosphataemia or rickets v0.34 CLCN5 Ivone Leong Marked gene: CLCN5 as ready
Hypophosphataemia or rickets v0.34 CLCN5 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is insufficient evidence to rate this gene as green. So will remain as amber.
Hypophosphataemia or rickets v0.34 CLCN5 Ivone Leong Gene: clcn5 has been classified as Amber List (Moderate Evidence).
Hypophosphataemia or rickets v0.34 VDR Ivone Leong commented on gene: VDR: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Hypophosphataemia or rickets v0.34 SLC34A1 Ivone Leong commented on gene: SLC34A1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Hypophosphataemia or rickets v0.34 FAM20C Ivone Leong commented on gene: FAM20C: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Hypophosphataemia or rickets v0.34 CYP2R1 Ivone Leong commented on gene: CYP2R1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Hypophosphataemia or rickets v0.34 CYP27B1 Ivone Leong commented on gene: CYP27B1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Hypophosphataemia or rickets v0.34 SLC34A3 Ivone Leong commented on gene: SLC34A3: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Hypophosphataemia or rickets v0.34 PHEX Ivone Leong commented on gene: PHEX: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Hypophosphataemia or rickets v0.34 FGF23 Ivone Leong commented on gene: FGF23: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Hypophosphataemia or rickets v0.34 ENPP1 Ivone Leong commented on gene: ENPP1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Hypophosphataemia or rickets v0.34 DMP1 Ivone Leong commented on gene: DMP1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Hypophosphataemia or rickets v0.34 CLCN5 Martina Owens reviewed gene: CLCN5: Rating: AMBER; Mode of pathogenicity: ; Publications: 9596078, 9187673; Phenotypes: ; Mode of inheritance:
Hypophosphataemia or rickets v0.33 CYP3A4 Martina Owens reviewed gene: CYP3A4: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 29461981; Phenotypes: Vitamin D-Dependent Rickets; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypophosphataemia or rickets v0.33 CYP3A4 Martina Owens Deleted their review
Hypophosphataemia or rickets v0.33 CYP27B1 Ivone Leong Publications for gene: CYP27B1 were set to 9486994; 9415400
Hypophosphataemia or rickets v0.32 DMP1 Ivone Leong Publications for gene: DMP1 were set to 17033625; 15590631; 22695891; 20213538
Hypophosphataemia or rickets v0.31 CYP27B1 Martina Owens reviewed gene: CYP27B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30282619; Phenotypes: Vitamin D-Dependent Rickets; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.31 SLC34A3 Martina Owens reviewed gene: SLC34A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16358214, 16358215; Phenotypes: Hypophosphatemic rickets with hypercalciuria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hypophosphataemia or rickets v0.31 PHEX Martina Owens reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: None; Publications: 19219621, 7550339; Phenotypes: Hypophosphatemia, 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 v0.31 FGF23 Martina Owens reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Hypophosphatemia, rickets; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypophosphataemia or rickets v0.31 DMP1 Martina Owens edited their review of gene: DMP1: Set current diagnostic: yes
Hypophosphataemia or rickets v0.31 ENPP1 Martina Owens reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137773, 20137772; Phenotypes: Hypophosphatemia, rickets; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hypophosphataemia or rickets v0.31 DMP1 Martina Owens reviewed gene: DMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033625, 17033621; Phenotypes: Hypophosphatemia, rickets; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.31 FGFR1 Ivone Leong Classified gene: FGFR1 as Red List (low evidence)
Hypophosphataemia or rickets v0.31 FGFR1 Ivone Leong Added comment: Comment on list classification: Demoted from green to red as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust).
Hypophosphataemia or rickets v0.31 FGFR1 Ivone Leong Gene: fgfr1 has been classified as Red List (Low Evidence).
Hypophosphataemia or rickets v0.30 CYP3A4 Ivone Leong Marked gene: CYP3A4 as ready
Hypophosphataemia or rickets v0.30 CYP3A4 Ivone Leong Gene: cyp3a4 has been classified as Amber List (Moderate Evidence).
Hypophosphataemia or rickets v0.30 CYP3A4 Ivone Leong Classified gene: CYP3A4 as Amber List (moderate evidence)
Hypophosphataemia or rickets v0.30 CYP3A4 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber.There is not sufficient evidence to promote this gene to green status. The functional studies described in PMID: 29461981 is only in vitro studies. Have put 'watchlist' tag on.
Hypophosphataemia or rickets v0.30 CYP3A4 Ivone Leong Gene: cyp3a4 has been classified as Amber List (Moderate Evidence).
Hypophosphataemia or rickets v0.29 SLC9A3R1 Ivone Leong Marked gene: SLC9A3R1 as ready
Hypophosphataemia or rickets v0.29 SLC9A3R1 Ivone Leong Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Hypophosphataemia or rickets v0.29 SLC9A3R1 Ivone Leong Classified gene: SLC9A3R1 as Red List (low evidence)
Hypophosphataemia or rickets v0.29 SLC9A3R1 Ivone Leong Added comment: Comment on list classification: Demoted from amber to red based on review by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust).
Hypophosphataemia or rickets v0.29 SLC9A3R1 Ivone Leong Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Hypophosphataemia or rickets v0.28 SLC9A3R1 Martina Owens reviewed gene: SLC9A3R1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypophosphataemia or rickets v0.28 FGFR1 Martina Owens reviewed gene: FGFR1: Rating: RED; Mode of pathogenicity: ; Publications: 15625620; Phenotypes: ; Mode of inheritance:
Hypophosphataemia or rickets v0.27 CYP3A4 Martina Owens reviewed gene: CYP3A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 29461981; Phenotypes: vitamin Ddependent rickets type 3 (no OMIM number); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypophosphataemia or rickets v0.26 CYP3A4 Ivone Leong gene: CYP3A4 was added
gene: CYP3A4 was added to Hypophosphataemia or rickets. Sources: NHS GMS
Mode of inheritance for gene: CYP3A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYP3A4 were set to 29461981
Hypophosphataemia or rickets v0.24 FAM20C Ivone Leong Classified gene: FAM20C as Green List (high evidence)
Hypophosphataemia or rickets v0.24 FAM20C Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on previous comment.
Hypophosphataemia or rickets v0.24 FAM20C Ivone Leong Gene: fam20c has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.23 FAM20C Ivone Leong Publications for gene: FAM20C were set to
Hypophosphataemia or rickets v0.22 CYP2R1 Ivone Leong Classified gene: CYP2R1 as Green List (high evidence)
Hypophosphataemia or rickets v0.22 CYP2R1 Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on previous comment. CYP2R1 is also confirmed as associated with Rickets due to defect in vitamin D 25-hydroxylation on OMIM but no phenotypes are listed for it on Gene2Phenotype.
Hypophosphataemia or rickets v0.22 CYP2R1 Ivone Leong Gene: cyp2r1 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.21 CYP2R1 Ivone Leong Publications for gene: CYP2R1 were set to
Hypophosphataemia or rickets v0.20 CLCN5 Ivone Leong Classified gene: CLCN5 as Amber List (moderate evidence)
Hypophosphataemia or rickets v0.20 CLCN5 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber based on the previous comment. CLCN5 is confirmed to be associated with hypophosphataemic rickets on OMIM, but no phenotypes are listed for it on Gene2Phenotype. It is also a green gene on the Skeletal dysplasia panel (Version 1.129).
Hypophosphataemia or rickets v0.20 CLCN5 Ivone Leong Gene: clcn5 has been classified as Amber List (Moderate Evidence).
Hypophosphataemia or rickets v0.19 CLCN5 Ivone Leong Publications for gene: CLCN5 were set to
Hypophosphataemia or rickets v0.18 VDR Ivone Leong Classified gene: VDR as Green List (high evidence)
Hypophosphataemia or rickets v0.18 VDR Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on previous comment.
Hypophosphataemia or rickets v0.18 VDR Ivone Leong Gene: vdr has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.17 CYP27B1 Ivone Leong Classified gene: CYP27B1 as Green List (high evidence)
Hypophosphataemia or rickets v0.17 CYP27B1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on previous comments.
Hypophosphataemia or rickets v0.17 CYP27B1 Ivone Leong Gene: cyp27b1 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.16 CYP27B1 Ivone Leong Publications for gene: CYP27B1 were set to
Hypophosphataemia or rickets v0.15 SLC9A3R1 Ivone Leong Classified gene: SLC9A3R1 as Amber List (moderate evidence)
Hypophosphataemia or rickets v0.15 SLC9A3R1 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber based on previous comment.
Hypophosphataemia or rickets v0.15 SLC9A3R1 Ivone Leong Gene: slc9a3r1 has been classified as Amber List (Moderate Evidence).
Hypophosphataemia or rickets v0.14 SLC9A3R1 Ivone Leong Publications for gene: SLC9A3R1 were set to
Hypophosphataemia or rickets v0.13 FGFR1 Ivone Leong Classified gene: FGFR1 as Green List (high evidence)
Hypophosphataemia or rickets v0.13 FGFR1 Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on the previous comment.
Hypophosphataemia or rickets v0.13 FGFR1 Ivone Leong Gene: fgfr1 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.12 FGFR1 Ivone Leong Publications for gene: FGFR1 were set to
Hypophosphataemia or rickets v0.11 SLC34A1 Ivone Leong Publications for gene: SLC34A1 were set to
Hypophosphataemia or rickets v0.10 SLC34A1 Ivone Leong Classified gene: SLC34A1 as Green List (high evidence)
Hypophosphataemia or rickets v0.10 SLC34A1 Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on previous comments.
Hypophosphataemia or rickets v0.10 SLC34A1 Ivone Leong Gene: slc34a1 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.9 SLC9A3R1 Ivone Leong reviewed gene: SLC9A3R1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18784102, 25296721, 19073985; Phenotypes: ; Mode of inheritance: None
Hypophosphataemia or rickets v0.9 SLC34A1 Ivone Leong edited their review of gene: SLC34A1: Added comment: Found an additional case of 2 siblings from Argentina who have hypophosphatemic nephrolithiasis/osteoporosis with a missense variant in SLC34A1.; Changed rating: GREEN; Changed publications: 12324554, 9560283, 25050900
Hypophosphataemia or rickets v0.9 SLC34A1 Ivone Leong reviewed gene: SLC34A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 12324554, 9560283; Phenotypes: ; Mode of inheritance: None
Hypophosphataemia or rickets v0.9 FGFR1 Ivone Leong reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15625620, 20236123; Phenotypes: ; Mode of inheritance: None
Hypophosphataemia or rickets v0.9 ENPP1 Ivone Leong commented on gene: ENPP1: ENPP1 is a green gene on the Skeletal dysplasia panel (Version 1.129).
Hypophosphataemia or rickets v0.9 FGF23 Ivone Leong commented on gene: FGF23: FGF23 is a green gene on the Skeletal dysplasia panel (Version 1.129).
Hypophosphataemia or rickets v0.9 PHEX Ivone Leong commented on gene: PHEX: PHEX is a green gene on the Skeletal dysplasia panel (Version 1.129).
Hypophosphataemia or rickets v0.9 SLC34A3 Ivone Leong commented on gene: SLC34A3: SLC34A3 is a green gene on the Skeletal dysplasia panel (Version 1.129).
Hypophosphataemia or rickets v0.9 FAM20C Ivone Leong reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 29751744, 17924334, 19250384, 20825432; Phenotypes: ; Mode of inheritance: None
Hypophosphataemia or rickets v0.9 CYP2R1 Ivone Leong Mode of inheritance for gene: CYP2R1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.8 CYP2R1 Ivone Leong reviewed gene: CYP2R1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22855339, 15128933, 28548312, 25942481; Phenotypes: ; Mode of inheritance: None
Hypophosphataemia or rickets v0.8 VDR Ivone Leong edited their review of gene: VDR: Changed rating: GREEN
Hypophosphataemia or rickets v0.8 CYP27B1 Ivone Leong edited their review of gene: CYP27B1: Changed rating: GREEN
Hypophosphataemia or rickets v0.8 CLCN5 Ivone Leong reviewed gene: CLCN5: Rating: ; Mode of pathogenicity: None; Publications: 28383812, 9187673; Phenotypes: ; Mode of inheritance: None
Hypophosphataemia or rickets v0.8 VDR Ivone Leong commented on gene: VDR
Hypophosphataemia or rickets v0.8 CYP27B1 Ivone Leong commented on gene: CYP27B1: CYP27B1 is a green gene on the Skeletal dysplasia panel.
Hypophosphataemia or rickets v0.8 CYP27B1 Ivone Leong reviewed gene: CYP27B1: Rating: ; Mode of pathogenicity: None; Publications: 9486994, 9415400; Phenotypes: ; Mode of inheritance: None
Hypophosphataemia or rickets v0.8 SLC34A3 Ivone Leong Marked gene: SLC34A3 as ready
Hypophosphataemia or rickets v0.8 SLC34A3 Ivone Leong Added comment: Comment when marking as ready: OMIM lists hypophosphataemic rickets as a phenotype associated with SLC34A3; however, nothing is listed on Gene2Phenotype. There are more then 3 families with hypophosphataemic rickets with different SLC34A3 variants.
Hypophosphataemia or rickets v0.8 SLC34A3 Ivone Leong Gene: slc34a3 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.8 SLC34A3 Ivone Leong Publications for gene: SLC34A3 were set to
Hypophosphataemia or rickets v0.7 ENPP1 Ivone Leong Marked gene: ENPP1 as ready
Hypophosphataemia or rickets v0.7 ENPP1 Ivone Leong Added comment: Comment when marking as ready: Both OMIM and Gene2Phenotype confirm that ENPP1 is associated with autosomal recessive hypophosphataemic rickets (ARHR). One study (PMID: 20137773) describes 5 individuals with ARHR from 4 unrelated families. The study found 3 different ENPP1 variants. Another study (PMID: 20137772) reported on two brothers with ARHR who have homozygous ENPP1 variant.
Hypophosphataemia or rickets v0.7 ENPP1 Ivone Leong Gene: enpp1 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.7 ENPP1 Ivone Leong Publications for gene: ENPP1 were set to
Hypophosphataemia or rickets v0.6 DMP1 Ivone Leong Marked gene: DMP1 as ready
Hypophosphataemia or rickets v0.6 DMP1 Ivone Leong Added comment: Comment when marking as ready: Hypophosphataemic rickets confirmed on OMIM and Gene2Phenotype as associated with DMP1. DMP1 is a green gene on the Skeletal dysplasia panel. One study reported 3 unrelated families with affected members diagnosed with hypophosphataemic rickets who have DMP1 variants (PMID: 17033625). Another 2 studies reported 2 patients with variants in DMP1 diagnosed with hypophosphataemic rickets (PMID: 22695891,20213538). There is also a mouse model (PMID:15590631) to further support his association.
Hypophosphataemia or rickets v0.6 DMP1 Ivone Leong Gene: dmp1 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.6 DMP1 Ivone Leong Publications for gene: DMP1 were set to
Hypophosphataemia or rickets v0.5 FGF23 Ivone Leong Marked gene: FGF23 as ready
Hypophosphataemia or rickets v0.5 FGF23 Ivone Leong Added comment: Comment when marking as ready: Autosomal dominant hypophosphataemic rickets (ADHR) is confirmed to be associated with FGF23 on OMIM but not Gene2Phenotype. It is a green gene on the Skeletal hyperplasia panel. There is one family reported with a variant in FGF23 diagnosed with ADHR (PMID: 28383812). Another study reported two different variants in FgF23 in two unrelated families diagnosed with ADHR (PMID:11062477). Mouse model with conditional deletion of FGF23 (PMID: 26792657) further supports that variants in FGF23 cause ADHR.
Hypophosphataemia or rickets v0.5 FGF23 Ivone Leong Gene: fgf23 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.5 FGF23 Ivone Leong Publications for gene: FGF23 were set to
Hypophosphataemia or rickets v0.4 PHEX Ivone Leong Marked gene: PHEX as ready
Hypophosphataemia or rickets v0.4 PHEX Ivone Leong Added comment: Comment when marking as ready: OMIM has confirmed that PHEX is associated with hypophosphataemic rickets; however, no phenotype is listed wih PHEX on Gene2Phenotype. There are many publications linking varaints in PHEX as the cause for hypophosphataemic rickets. Also, based on the review by Sian Ellard (University of Exeter Medical School).
Hypophosphataemia or rickets v0.4 PHEX Ivone Leong Gene: phex has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.4 PHEX Ivone Leong Publications for gene: PHEX were set to
Hypophosphataemia or rickets v0.3 SLC34A3 Sian Ellard reviewed gene: SLC34A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hypophosphataemia or rickets v0.3 FGF23 Sian Ellard reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062477; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypophosphataemia or rickets v0.3 ENPP1 Sian Ellard reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137773; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hypophosphataemia or rickets v0.3 DMP1 Sian Ellard reviewed gene: DMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033625; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hypophosphataemia or rickets v0.3 PHEX Sian Ellard reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: None; Publications: 7550339, 9106524, 19219621; Phenotypes: ; 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 v0.2 FGFR1 Ivone Leong Mode of inheritance for gene: FGFR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypophosphataemia or rickets v0.1 FGFR1 Ivone Leong gene: FGFR1 was added
gene: FGFR1 was added to Hypophosphataemia or rickets. Sources: Literature,Emory Genetics Laboratory
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR1 were set to Osteoglophonic dysplasia (166250); Hypophosphatemia
Hypophosphataemia or rickets v0.1 FAM20C Ivone Leong gene: FAM20C was added
gene: FAM20C was added to Hypophosphataemia or rickets. Sources: Literature,Expert list,Emory Genetics Laboratory
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20C were set to Raine syndrome (259775)
Hypophosphataemia or rickets v0.1 SLC34A1 Ivone Leong gene: SLC34A1 was added
gene: SLC34A1 was added to Hypophosphataemia or rickets. Sources: Literature
Mode of inheritance for gene: SLC34A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC34A1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (612286)
Hypophosphataemia or rickets v0.1 CYP2R1 Ivone Leong gene: CYP2R1 was added
gene: CYP2R1 was added to Hypophosphataemia or rickets. Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation (600081)
Hypophosphataemia or rickets v0.1 VDR Ivone Leong gene: VDR was added
gene: VDR was added to Hypophosphataemia or rickets. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VDR were set to Rickets, vitamin D-resistant, type IIA (277440)
Hypophosphataemia or rickets v0.1 CYP27B1 Ivone Leong gene: CYP27B1 was added
gene: CYP27B1 was added to Hypophosphataemia or rickets. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I (264700)
Hypophosphataemia or rickets v0.1 ENPP1 Ivone Leong gene: ENPP1 was added
gene: ENPP1 was added to Hypophosphataemia or rickets. Sources: Expert list,UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ENPP1 were set to Hypophosphatemic rickets, autosomal recessive, 2 (613312)
Hypophosphataemia or rickets v0.1 CLCN5 Ivone Leong gene: CLCN5 was added
gene: CLCN5 was added to Hypophosphataemia or rickets. Sources: Expert list,Emory Genetics Laboratory
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CLCN5 were set to Hypophosphatemic rickets (300554)
Hypophosphataemia or rickets v0.1 SLC9A3R1 Ivone Leong gene: SLC9A3R1 was added
gene: SLC9A3R1 was added to Hypophosphataemia or rickets. Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SLC9A3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC9A3R1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (612287)
Hypophosphataemia or rickets v0.1 SLC34A3 Ivone Leong gene: SLC34A3 was added
gene: SLC34A3 was added to Hypophosphataemia or rickets. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria (241530)
Hypophosphataemia or rickets v0.1 DMP1 Ivone Leong gene: DMP1 was added
gene: DMP1 was added to Hypophosphataemia or rickets. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DMP1 were set to Hypophosphatemic rickets, AR (241520)
Hypophosphataemia or rickets v0.1 FGF23 Ivone Leong gene: FGF23 was added
gene: FGF23 was added to Hypophosphataemia or rickets. Sources: Expert list,UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FGF23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF23 were set to Hypophosphatemic rickets, autosomal dominant (193100)
Hypophosphataemia or rickets v0.1 PHEX Ivone Leong gene: PHEX was added
gene: PHEX was added to Hypophosphataemia or rickets. Sources: Expert list,UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant (307800)
Hypophosphataemia or rickets v0.0 Ellen McDonagh Added Panel Hypophosphataemia or rickets
Set panel types to: GMS Rare Disease Virtual