Description
This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital). It is currently maintained by VCGS.

2 reviewers

  • Bryony Thompson (Royal Melbourne Hospital)

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

7 Entities

7 reviewed, 3 green

List Entity Reviews Mode of inheritance Details
7 Entitiess
Green Green List (high evidence)
F12
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Angioedema, hereditary, 3, MIM# 610618
Tags
  • founder
Green Green List (high evidence)
PLG
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hereditary angioedema-4 (HAE4), MIM#619360
Tags
Green Green List (high evidence)
SERPING1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Angioedema, hereditary, 1 and 2, MIM# 106100
Tags
Amber Amber List (moderate evidence)
ANGPT1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Hereditary angioedema-5 (HAE5), MIM#619361
Tags
Amber Amber List (moderate evidence)
KNG1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Hereditary angioedema-6 (HAE6), MIM#619363
Tags
Red Red List (low evidence)
HS3ST6
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Hereditary angioedema-8 (HAE8), MIM#619367
Tags
Red Red List (low evidence)
MYOF
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Hereditary angioedema-7 (HAE7), MIM#619366
Tags

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