PanelApp (staging)
  1. Panels
  2. Haematuria_Alport
Description
This panels is intended for use in individuals presenting predominantly with haematuria and/or other features strongly suggestive of Alport syndrome. MBS funding is available for testing of the COL4A3, COL4A4 and COL4A5 genes.

Where the clinical presentation is less specific but still strongly suggestive of monogenic glomerular disease, please consider using the broader Renal Glomerular Disease panel.

This is a consensus panel used by the KidGen Collaborative, VCGS and RMH. 09/01/2020: This panel has been compared with the Genomics England PanelApp Haematuria panel; no discrepancies were identified.
Panel Activity

3 reviewers

  • Chirag Patel (Genetic Health Queensland)

  • Ee Ming Wong (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

15 Entities

15 reviewed, 5 green

List Entity Reviews Mode of inheritance Details
15 Entitiess
Green Green List (high evidence)
COL4A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773
Tags
Green Green List (high evidence)
COL4A3
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alport syndrome 2, autosomal recessive, MIM# 203780
  • Alport syndrome 3, autosomal dominant, MIM# 104200
Tags
  • Medicare
Green Green List (high evidence)
COL4A4
1 review
1 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
  • Alport syndrome 2, autosomal recessive, 203780
  • Thin basement membrane nephropathy (TBMN), AD
  • Focal segmental glomerulosclerosis (FSGS), AD
Tags
  • Medicare
Green Green List (high evidence)
COL4A5
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alport syndrome 1, X-linked, MIM# 301050
Tags
  • Medicare
Green Green List (high evidence)
MYH9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
Tags
Red Red List (low evidence)
CD151
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
Tags
Red Red List (low evidence)
CFH
2 reviews
1 green 1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Complement factor H deficiency, MIM#609814
Tags
Red Red List (low evidence)
CFHR5
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephropathy due to CFHR5 deficiency, MIM#614809
Tags
  • SV/CNV
Red Red List (low evidence)
CLCN5
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
COL4A2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Brain small vessel disease 2, MIM#614483
Tags
Red Red List (low evidence)
CUBN
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
FN1
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
LMX1B
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
NPHS2
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
OCRL
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags

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