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Amyloidosis v1.0 Bryony Thompson promoted panel to version 1.0
Amyloidosis v0.37 GPNMB Bryony Thompson Marked gene: GPNMB as ready
Amyloidosis v0.37 GPNMB Bryony Thompson Gene: gpnmb has been classified as Green List (High Evidence).
Amyloidosis v0.37 GPNMB Bryony Thompson Classified gene: GPNMB as Green List (high evidence)
Amyloidosis v0.37 GPNMB Bryony Thompson Gene: gpnmb has been classified as Green List (High Evidence).
Amyloidosis v0.36 OSMR Bryony Thompson Marked gene: OSMR as ready
Amyloidosis v0.36 OSMR Bryony Thompson Gene: osmr has been classified as Green List (High Evidence).
Amyloidosis v0.36 OSMR Bryony Thompson Classified gene: OSMR as Green List (high evidence)
Amyloidosis v0.36 OSMR Bryony Thompson Gene: osmr has been classified as Green List (High Evidence).
Amyloidosis v0.34 GPNMB Bryony Thompson gene: GPNMB was added
gene: GPNMB was added to Amyloidosis. Sources: Other
Mode of inheritance for gene: GPNMB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPNMB were set to 29336782
Phenotypes for gene: GPNMB were set to amyloidosis, primary localized cutaneous, 3 MONDO:0054765
Amyloidosis v0.33 OSMR Bryony Thompson gene: OSMR was added
gene: OSMR was added to Amyloidosis. Sources: Other
Mode of inheritance for gene: OSMR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OSMR were set to 19375894; 19528426; 25054142; 20507362; 19690585
Phenotypes for gene: OSMR were set to primary cutaneous amyloidosis MONDO:0015301
Amyloidosis v0.32 APOA4 Zornitza Stark Phenotypes for gene: APOA4 were changed from Hereditary amyloidosis, MONDO:0018634, APOA4-related to Hereditary amyloidosis, MONDO:0018634, APOA4-related; Tubulointerstitial kidney disease, autosomal dominant 6, MIM# 621106
Amyloidosis v0.31 APOA4 Zornitza Stark Marked gene: APOA4 as ready
Amyloidosis v0.31 APOA4 Zornitza Stark Gene: apoa4 has been classified as Green List (High Evidence).
Amyloidosis v0.31 APOA4 Zornitza Stark Phenotypes for gene: APOA4 were changed from Autosomal dominant renal medullary amyloidosis to Hereditary amyloidosis, MONDO:0018634, APOA4-related
Amyloidosis v0.30 APOA4 Chirag Patel Classified gene: APOA4 as Green List (high evidence)
Amyloidosis v0.30 APOA4 Chirag Patel Gene: apoa4 has been classified as Green List (High Evidence).
Amyloidosis v0.29 APOA4 Chirag Patel gene: APOA4 was added
gene: APOA4 was added to Amyloidosis. Sources: Literature
Mode of inheritance for gene: APOA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOA4 were set to PMID: 38096951
Phenotypes for gene: APOA4 were set to Autosomal dominant renal medullary amyloidosis
Review for gene: APOA4 was set to GREEN
Added comment: 5 families with autosomal dominant medullary amyloidosis. WGS/WES identified 2 different variants in the APOA4 gene (p.D33N in 3 families and p.L66V in 2 families). The variants were absent in gnomAD, located at the structurally flexible N-terminal domain of APOA4, and segregated with disease. There were 48 genotype +ve individuals with 44/48 having an eGFR <60. All clinically affected individuals presented with a bland urinary sediment, CKD, and no clinical evidence of systemic amyloidosis. Mean age of dialysis/transplantation was 58+/-11yrs. Routine kidney biopsies limited to the kidney cortex showed tubulointerstitial fibrosis and secondary glomerulosclerosis and no amyloid deposition. Four affected individuals were shown to have isolated medullary deposition of amyloid, with mass spectrometry showing the mutated Apoa4 as the primary constituent in 3 available cases.
Plasma total ApoA4 levels were increased for patients (n=15) with ApoA4 mutations versus controls (n=49). They hypothesize that the amino acid substitutions alter the tertiary or quaternary structure of the mutated ApoA4, leading to increased plasma and primary urine concentrations and isolated medullary amyloid deposition.
Sources: Literature
Amyloidosis v0.27 Bryony Thompson Panel name changed from Renal Amyloidosis to Amyloidosis
HPO terms changed from Renal amyloidosis, HP:0001917 to Renal amyloidosis, HP:0001917; Amyloidosis, HP:0011034
List of related panels changed from Renal amyloidosis; HP:0001917 to Renal amyloidosis; HP:0001917; Amyloidosis; HP:0011034
Panel types changed to Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital
Amyloidosis v0.26 B2M Bryony Thompson Classified gene: B2M as Green List (high evidence)
Amyloidosis v0.26 B2M Bryony Thompson Gene: b2m has been classified as Green List (High Evidence).
Amyloidosis v0.25 B2M Bryony Thompson gene: B2M was added
gene: B2M was added to Renal Amyloidosis. Sources: Literature
Mode of inheritance for gene: B2M was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: B2M were set to 22693999; 37223323; 24014031; 35575118; 32875920
Phenotypes for gene: B2M were set to variant ABeta2M amyloidosis MONDO:0017810
Review for gene: B2M was set to GREEN
Added comment: 4 probands/families with amyloidosis and supporting in vitro functional studies.
Sources: Literature
Amyloidosis v0.24 TTR Bryony Thompson Marked gene: TTR as ready
Amyloidosis v0.24 TTR Bryony Thompson Gene: ttr has been classified as Green List (High Evidence).
Amyloidosis v0.24 TTR Bryony Thompson Classified gene: TTR as Green List (high evidence)
Amyloidosis v0.24 TTR Bryony Thompson Gene: ttr has been classified as Green List (High Evidence).
Amyloidosis v0.23 TTR Bryony Thompson gene: TTR was added
gene: TTR was added to Renal Amyloidosis. Sources: Literature
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTR were set to 20301373; 38484868
Phenotypes for gene: TTR were set to hereditary ATTR amyloidosis MONDO:0017132
Review for gene: TTR was set to GREEN
gene: TTR was marked as current diagnostic
Added comment: The kidney is one of the main organs affected by transthyretin amyloidosis.
Sources: Literature
Amyloidosis v0.22 Zornitza Stark HPO terms changed from to Renal amyloidosis, HP:0001917
List of related panels changed from to Renal amyloidosis; HP:0001917
Amyloidosis v0.21 FGA Zornitza Stark Publications for gene: FGA were set to PubMed: 8097946; 8639778; 12050338
Amyloidosis v0.20 FGA Zornitza Stark reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31064749, 17295221, 19073821, 11739173; Phenotypes: Amyloidosis, familial visceral (MIM#105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Amyloidosis v0.20 Zornitza Stark Panel name changed from Renal amyloidosis_KidGen_VCGS to Renal Amyloidosis
Panel types changed to Victorian Clinical Genetics Services; KidGen
Amyloidosis v0.19 Zornitza Stark Panel name changed from Amyloidosis_KidGen_VCGS to Renal amyloidosis_KidGen_VCGS
Amyloidosis v0.18 Zornitza Stark Panel name changed from Amyloidosis_KidGen to Amyloidosis_KidGen_VCGS
Amyloidosis v0.17 NLRP3 Zornitza Stark Marked gene: NLRP3 as ready
Amyloidosis v0.17 NLRP3 Zornitza Stark Gene: nlrp3 has been classified as Green List (High Evidence).
Amyloidosis v0.17 NLRP3 Zornitza Stark Phenotypes for gene: NLRP3 were changed from Muckle-Wells syndrome to Muckle-Wells syndrome, MIM#191900
Amyloidosis v0.16 NLRP3 Zornitza Stark Classified gene: NLRP3 as Green List (high evidence)
Amyloidosis v0.16 NLRP3 Zornitza Stark Gene: nlrp3 has been classified as Green List (High Evidence).
Amyloidosis v0.15 LYZ Zornitza Stark Marked gene: LYZ as ready
Amyloidosis v0.15 LYZ Zornitza Stark Gene: lyz has been classified as Green List (High Evidence).
Amyloidosis v0.15 LYZ Zornitza Stark Phenotypes for gene: LYZ were changed from Amyloidosis, renal to Amyloidosis, renal, MIM#105200
Amyloidosis v0.14 LYZ Zornitza Stark Classified gene: LYZ as Green List (high evidence)
Amyloidosis v0.14 LYZ Zornitza Stark Gene: lyz has been classified as Green List (High Evidence).
Amyloidosis v0.13 GSN Zornitza Stark Marked gene: GSN as ready
Amyloidosis v0.13 GSN Zornitza Stark Gene: gsn has been classified as Green List (High Evidence).
Amyloidosis v0.13 GSN Zornitza Stark Phenotypes for gene: GSN were changed from Amyloidosis, Finnish type to Amyloidosis, Finnish type, MIM#105200
Amyloidosis v0.12 GSN Zornitza Stark Classified gene: GSN as Green List (high evidence)
Amyloidosis v0.12 GSN Zornitza Stark Gene: gsn has been classified as Green List (High Evidence).
Amyloidosis v0.11 FGA Zornitza Stark Marked gene: FGA as ready
Amyloidosis v0.11 FGA Zornitza Stark Gene: fga has been classified as Green List (High Evidence).
Amyloidosis v0.11 FGA Zornitza Stark Phenotypes for gene: FGA were changed from Amyloidosis, familial visceral to Amyloidosis, familial visceral, MIM#105200
Amyloidosis v0.10 FGA Zornitza Stark Classified gene: FGA as Green List (high evidence)
Amyloidosis v0.10 FGA Zornitza Stark Gene: fga has been classified as Green List (High Evidence).
Amyloidosis v0.9 APOA1 Zornitza Stark Marked gene: APOA1 as ready
Amyloidosis v0.9 APOA1 Zornitza Stark Gene: apoa1 has been classified as Green List (High Evidence).
Amyloidosis v0.9 APOA1 Zornitza Stark Phenotypes for gene: APOA1 were changed from Amyloidosis, 3 or more types to Amyloidosis, 3 or more types, MIM#105200
Amyloidosis v0.8 APOA1 Zornitza Stark Classified gene: APOA1 as Green List (high evidence)
Amyloidosis v0.8 APOA1 Zornitza Stark Gene: apoa1 has been classified as Green List (High Evidence).
Amyloidosis v0.7 GSN Chirag Patel Publications for gene GSN were changed from PubMed: 8395367; 2176164; 8684801; 6975851; 29167514 to PubMed: 8395367; 2176164; 8684801; 6975851; 29167514
Amyloidosis v0.6 GSN Chirag Patel reviewed gene: GSN: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 8395367, 2176164, 8684801, 6975851, 29167514; Phenotypes: Amyloidosis, Finnish type; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Amyloidosis v0.6 GSN Chirag Patel Source KidGen_Amyloidosis v38.1.0 was removed from GSN.
Source Expert list was added to GSN.
Mode of inheritance for gene GSN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GSN were changed from to Amyloidosis, Finnish type
Publications for gene GSN were changed from PubMed: 8395367; 2176164; 8684801; 6975851 to PubMed: 8395367; 2176164; 8684801; 6975851
Amyloidosis v0.5 APOA1 Chirag Patel Source KidGen_Amyloidosis v38.1.0 was removed from APOA1.
Source Expert list was added to APOA1.
Mode of inheritance for gene APOA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APOA1 were changed from to Amyloidosis, 3 or more types
Publications for gene APOA1 were changed from PubMed:31482740; 29968409; 27240838 to PubMed:31482740; 29968409; 27240838
Amyloidosis v0.4 APOA1 Chirag Patel reviewed gene: APOA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed:31482740, 29968409, 27240838; Phenotypes: Amyloidosis, 3 or more types; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Amyloidosis v0.4 FGA Chirag Patel edited their review of gene: FGA: Changed rating: GREEN; Changed publications: PubMed: 8097946, 8639778, 12050338
Amyloidosis v0.4 FGA Chirag Patel Source KidGen_Amyloidosis v38.1.0 was removed from FGA.
Source Expert list was added to FGA.
Mode of inheritance for gene FGA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGA were changed from to Amyloidosis, familial visceral
Publications for gene FGA were changed from PubMed: 8097946; 8639778; 12050338 to PubMed: 8097946; 8639778; 12050338
Amyloidosis v0.3 FGA Chirag Patel reviewed gene: FGA: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, familial visceral; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Amyloidosis v0.3 LYZ Chirag Patel reviewed gene: LYZ: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 1808634, 8464497, 15745733,; Phenotypes: Amyloidosis, renal; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Amyloidosis v0.3 LYZ Chirag Patel Source KidGen_Amyloidosis v38.1.0 was removed from LYZ.
Source Expert list was added to LYZ.
Mode of inheritance for gene LYZ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LYZ were changed from to Amyloidosis, renal
Publications for gene LYZ were changed from PubMed: 1808634; 8464497; 15745733, to PubMed: 1808634; 8464497; 15745733,
Amyloidosis v0.2 NLRP3 Chirag Patel Publications for gene NLRP3 were changed from PubMed: 11687797; 28229991; 27435956; 31057541 to PubMed: 11687797; 28229991; 27435956; 31057541
Amyloidosis v0.1 NLRP3 Chirag Patel Source KidGen_Amyloidosis v38.1.0 was removed from NLRP3.
Source Expert list was added to NLRP3.
Mode of inheritance for gene NLRP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NLRP3 were changed from to Muckle-Wells syndrome
Amyloidosis v0.0 NLRP3 Chirag Patel reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 11687797, 28229991, 27435956, 31057541; Phenotypes: Muckle-Wells syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Amyloidosis v0.0 NLRP3 Zornitza Stark gene: NLRP3 was added
gene: NLRP3 was added to Amyloidosis_KidGen. Sources: KidGen_Amyloidosis v38.1.0
Mode of inheritance for gene: NLRP3 was set to Unknown
Amyloidosis v0.0 LYZ Zornitza Stark gene: LYZ was added
gene: LYZ was added to Amyloidosis_KidGen. Sources: KidGen_Amyloidosis v38.1.0
Mode of inheritance for gene: LYZ was set to Unknown
Amyloidosis v0.0 GSN Zornitza Stark gene: GSN was added
gene: GSN was added to Amyloidosis_KidGen. Sources: KidGen_Amyloidosis v38.1.0
Mode of inheritance for gene: GSN was set to Unknown
Amyloidosis v0.0 FGA Zornitza Stark gene: FGA was added
gene: FGA was added to Amyloidosis_KidGen. Sources: KidGen_Amyloidosis v38.1.0
Mode of inheritance for gene: FGA was set to Unknown
Amyloidosis v0.0 APOA1 Zornitza Stark gene: APOA1 was added
gene: APOA1 was added to Amyloidosis_KidGen. Sources: KidGen_Amyloidosis v38.1.0
Mode of inheritance for gene: APOA1 was set to Unknown
Amyloidosis v0.0 Zornitza Stark Added panel Amyloidosis_KidGen