Description
This panel was developed and is maintained by VCGS.

5 reviewers

  • Chris Richmond (Genetic Health Queensland)

  • Sue White (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

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

22 Entities

11 reviewed, 19 green

List Entity Reviews Mode of inheritance Details
22 Entitiess
Green Green List (high evidence)
ADAMTS3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 3 (618154)
Tags
Green Green List (high evidence)
ANGPT2
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lymphatic malformation-10, MIM#619369
  • Primary lymphoedema
  • Hydrops
Tags
Green Green List (high evidence)
CCBE1
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CELSR1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lymphatic malformation 9, MIM# 619319
Tags
Green Green List (high evidence)
EPHB4
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ERG
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lymphatic malformation 14, MIM# 620602
Tags
Green Green List (high evidence)
FAT4
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FLT4
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FOXC2
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
GATA2
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
GJA1
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
GJC2
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HGF
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lymphoedema, MONDO:0019297, HGF-related
Tags
Green Green List (high evidence)
IKBKG
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PIEZO1
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PTPN14
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Choanal atresia and lymphedema MIM#613611
Tags
Green Green List (high evidence)
SOX18
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TIE1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lymphatic malformation 11, MIM# 619401
Tags
Green Green List (high evidence)
VEGFC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lymphatic malformation 4, MIM#615907
Tags
Amber Amber List (moderate evidence)
ARAP3
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lymphoedema, MONDO:0019297, ARAP3-related
Tags
Amber Amber List (moderate evidence)
KIF11
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950
  • MONDO:0007918
Tags
Amber Amber List (moderate evidence)
RORC
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lymphoedema
Tags

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