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  2. Alagille syndrome

Alagille syndrome (Version 1.0)

Level 2: Dysmorphic and congenital abnormality syndromes

Panel types: Victorian Clinical Genetics Services, Rare Disease
Description
This panel was developed and is maintained by VCGS.
Panel Activity

1 reviewer

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

2 Entities

2 reviewed, 2 green

List Entity Reviews Mode of inheritance Details
2 Entitiess
Green List (high evidence)
JAG1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alagille syndrome, MIM# 1 118450
Tags
Green List (high evidence)
NOTCH2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alagille syndrome 2, MIM# 610205
Tags

Major version comments

  • 2020-09-24 11:24 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Panel promoted to V1

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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