PanelApp
  1. Panels
  2. Atypical Haemolytic Uraemic Syndrome_MPGN
Description
Renal complement disorders panel including atypical Haemolytic Uraemic Syndrome (aHUS) and Membranoproliferative Glomerulonephritis (MPGN).

This panel was developed and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS and RMH.

The contents of this panel have been compared against the Genomics England PanelApp aHUS and MPGN panels, and discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England. 09/01/2020
Panel Activity

7 reviewers

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services)

16 Entities

16 reviewed, 12 green

List Entity Reviews Mode of inheritance Details
16 Entitiess
Green Green List (high evidence)
C3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925
Tags
Green Green List (high evidence)
CD46
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Susceptibility to atypical hemolytic uremic syndrome 2} (MIM#612922), AD, AR
  • Atypical hemolytic uremic syndrome 2
Tags
Green Green List (high evidence)
CFB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Haemolytic uremic syndrome, atypical, susceptibility to, 4, MIM# 612924
Tags
Green Green List (high evidence)
CFH
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CFHR1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400
Tags
  • SV/CNV
Green Green List (high evidence)
CFHR2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
Tags
  • SV/CNV
Green Green List (high evidence)
CFHR3
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400
Tags
  • SV/CNV
Green Green List (high evidence)
CFHR5
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
  • SV/CNV
Green Green List (high evidence)
CFI
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DGKE
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MMACHC
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Tags
  • treatable
Green Green List (high evidence)
TSEN2
3 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • TRACK syndrome
Tags
Amber Amber List (moderate evidence)
ADAMTS13
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Thrombotic thrombocytopenic purpura, familial, OMIM #274150
Tags
Amber Amber List (moderate evidence)
C1GALT1C1
3 reviews
1 green 1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Haemolytic uraemic syndrome, atypical, 8, with rhizomelic short stature, MIM# 301110
Tags
Red Red List (low evidence)
THBD
3 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 6}
  • OMIM #612926
Tags
  • refuted
Red Red List (low evidence)
VTN
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Atypical haemolytic uraemic syndrome
Tags

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