Activity

Filter

Cancel
Date Panel Item Activity
50 actions
Haematuria v2.11 CFHR5 Eleanor Williams Phenotypes for gene: CFHR5 were changed from Haematuria; C3 glomerulopathy; kidney failure; macroscopic haematuria; Nephropathy due to CFHR5 deficiency #614809 to Nephropathy due to CFHR5 deficiency OMIM:614809
Haematuria v2.10 MYH9 Eleanor Williams Added comment: Comment on phenotypes: Note, Epstein syndrome #153650 and Fechtner syndrome #153640 have been merged by OMIM into Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100
Haematuria v2.10 MYH9 Eleanor Williams Phenotypes for gene: MYH9 were changed from Macrothrombocytopaenia; leukocyte inclusion bodies; sensorineural deafness; proteinuria; haematuria; cataracts; renal failure; Epstein syndrome, 153650; Fechtner syndrome, 153640 to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100
Haematuria v2.9 COL4A5 Eleanor Williams Phenotypes for gene: COL4A5 were changed from diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6; Alport syndrome, 301050; Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; thin glomerular basement membrane nephropathy or Alport syndrome; Alport syndrome; (originally on Alport syndrome gene panel) to Alport syndrome 1, X-linked OMIM:301050
Haematuria v2.8 COL4A4 Eleanor Williams Phenotypes for gene: COL4A4 were changed from Alport syndrome, autosomal recessive, 203780; Hematuria,familial benign; Alport Syndrome; Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; thin glomerular basement membrane nephropathy or Alport syndrome; Alport syndrome, autosomal recessive; (originally on Alport syndrome gene panel) to Alport syndrome 2, autosomal recessive OMIM:203780; Hematuria, familial benign OMIM:141200
Haematuria v2.7 COL4A3 Eleanor Williams Phenotypes for gene: COL4A3 were changed from Alport syndrome, autosomal recessive, 203780; Hematuria, benign familial, 141200; Alport syndrome, autosomal dominant, 104200; Alport Syndrome; Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; thin glomerular basement membrane nephropathy or Alport syndrome; Alport syndrome, autosomal dominant; Alport syndrome, autosomal recessive; Alport Syndrome; (originally on Alport syndrome gene panel) to Alport syndrome, autosomal dominant OMIM:104200; Alport syndrome, autosomal recessive OMIM:203780; Hematuria, benign familial OMIM:141200
Haematuria v2.6 COL4A1 Eleanor Williams Phenotypes for gene: COL4A1 were changed from Exophytic renal cysts; raised creatinine kinase; tortuous retinal vessels; intracranial anuerysms; haematuria; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; HANAC to Exophytic renal cysts; haematuria; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps OMIM:611773
Haematuria v2.5 Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Panel version has been signed off
Haematuria v2.4 Eleanor Williams Panel version has been signed off
Haematuria v2.3 Eleanor Williams Panel version has been signed off
Haematuria v2.0 Eleanor Williams promoted panel to version 2.0
Haematuria v1.31 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Haematuria v1.30 Eleanor Williams List of related panels changed from Alport syndrome; Familial haematuria to Alport syndrome; Familial haematuria; R194
Haematuria v1.28 NPHS2 Eleanor Williams Phenotypes for gene: NPHS2 were changed from Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; Nephrotic Syndrome, Type 2 to Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; Nephrotic Syndrome, Type 2; ?Modifier of COL4A variants
Haematuria v1.27 NPHS2 Eleanor Williams Publications for gene: NPHS2 were set to
Haematuria v1.26 MYH9 Eleanor Williams Phenotypes for gene: MYH9 were changed from Macrothrombocytopaenia; leukocyte inclusion bodies; sensorineural deafness; proteinuria; haematuria; cataracts; renal failure to Macrothrombocytopaenia; leukocyte inclusion bodies; sensorineural deafness; proteinuria; haematuria; cataracts; renal failure; Epstein syndrome, 153650; Fechtner syndrome, 153640
Haematuria v1.25 MYH9 Eleanor Williams Publications for gene: MYH9 were set to 10973259
Haematuria v1.24 COL4A4 Eleanor Williams Publications for gene: COL4A4 were set to 17942953
Haematuria v1.23 COL4A3 Eleanor Williams Publications for gene: COL4A3 were set to 17942953
Haematuria v1.22 COL4A1 Eleanor Williams Publications for gene: COL4A1 were set to 18160688; 20818663; 27190376; 26839400; 26260163; 28717939
Haematuria v1.21 CFHR5 Eleanor Williams Phenotypes for gene: CFHR5 were changed from Haematuria; C3 glomerulopathy; kidney failure; macroscopic haematuria to Haematuria; C3 glomerulopathy; kidney failure; macroscopic haematuria; Nephropathy due to CFHR5 deficiency #614809
Haematuria v1.20 CFHR5 Eleanor Williams Publications for gene: CFHR5 were set to PubMed: 20800271; 24067434
Haematuria v1.19 CFHR5 Eleanor Williams Classified gene: CFHR5 as Amber List (moderate evidence)
Haematuria v1.19 CFHR5 Eleanor Williams Added comment: Comment on list classification: Promoting to Amber after discussion with NHS GMS renal specialist group on 2019-02-04. Newcastle group report that they had 1 family with a variant in this gene.
Haematuria v1.19 CFHR5 Eleanor Williams Gene: cfhr5 has been classified as Amber List (Moderate Evidence).
Haematuria v1.18 NPHS2 Anna de Burca reviewed gene: NPHS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Haematuria v1.18 NPHS2 Eleanor Williams reviewed gene: NPHS2: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 26138234; Phenotypes: ?Modifier of COL4A variants; Mode of inheritance: Unknown; Current diagnostic: yes
Haematuria v1.18 MYH9 Eleanor Williams reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 12792306, 22627578; Phenotypes: Epstein syndrome #153650, Fechtner syndrome #153640; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Haematuria v1.18 COL4A6 Eleanor Williams reviewed gene: COL4A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Haematuria v1.18 COL4A5 Eleanor Williams reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 29987460, 29270492; 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
Haematuria v1.18 COL4A4 Eleanor Williams reviewed gene: COL4A4: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 30506145, 29987460, 24052634 ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Haematuria v1.18 COL4A3 Eleanor Williams reviewed gene: COL4A3: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 30506145, 29987460, 24052634 ; Phenotypes: Alport syndrome, autosomal dominant #104200, Alport syndrome, autosomal recessive #203780, Hematuria, benign familial #141200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Haematuria v1.18 COL4A1 Eleanor Williams reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 27190376, 19238787; Phenotypes: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps #61173; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Haematuria v1.18 CFHR5 Eleanor Williams reviewed gene: CFHR5: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID:23402027; Phenotypes: Nephropathy due to CFHR5 deficiency #614809; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematuria v1.17 NPHS2 Eleanor Williams Source NHS GMS was added to NPHS2.
Haematuria v1.17 MYH9 Eleanor Williams Source NHS GMS was added to MYH9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Haematuria v1.17 COL4A6 Eleanor Williams Source NHS GMS was added to COL4A6.
Haematuria v1.17 COL4A5 Eleanor Williams Source NHS GMS was added to COL4A5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Haematuria v1.17 COL4A4 Eleanor Williams Source NHS GMS was added to COL4A4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Haematuria v1.17 COL4A3 Eleanor Williams Source NHS GMS was added to COL4A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Haematuria v1.17 COL4A1 Eleanor Williams Source NHS GMS was added to COL4A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Haematuria v1.17 CFHR5 Eleanor Williams Source NHS GMS was added to CFHR5.
Haematuria v1.15 Ellen McDonagh Panel name changed from Familial haematuria to Haematuria
List of related panels changed from Alport syndrome to Alport syndrome; Familial haematuria
Panel types changed to Rare Disease 100K; GMS Rare Disease
Haematuria COL4A1 Ellen McDonagh marked COL4A1 as ready
Haematuria COL4A1 Ellen McDonagh classified COL4A1 as green
Haematuria COL4A1 Ellen McDonagh classified COL4A1 as amber
Haematuria COL4A1 Ellen McDonagh commented on COL4A1
Haematuria COL4A1 Ellen McDonagh classified COL4A1 as amber
Haematuria COL4A1 John Sayer added COL4A1 to panel
Haematuria COL4A1 John Sayer reviewed COL4A1