WAS

Wiskott-Aldrich syndrome
OMIM: 300392, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green WAS in Vasculitis


Level 2: Immunological disorders
Version 0.82

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green WAS in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.43

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Wiskott-Aldrich syndrome, MIM# 301000
  • Thrombocytopenia, X-linked, MIM# 313900

Green WAS in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Wiskott-Aldrich syndrome, MIM# 301000
  • Thrombocytopenia, X-linked, MIM# 313900

Red WAS in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services

Green WAS in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.121

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green WAS in Mendeliome


    Version 1.1902

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Wiskott-Aldrich syndrome, MIM# 301000
    • Thrombocytopaenia, X-linked, MIM# 313900
    • Neutropenia, severe congenital, X-linked , MIM#300299

    Green WAS in Predominantly Antibody Deficiency


    Level 2: Immunological disorders
    Version 0.135

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review Unknown
    Sources
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green WAS in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.66

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neutropaenia, severe congenital, X-linked MIM# 300299
    • Wiskott-Aldrich syndrome MIM# 301000
    • Thrombocytopaenia, X-linked MIM# 313900

    Green WAS in Hyper-IgE syndrome


    Level 2: Immunological disorders
    Version 1.5

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Immunology Flagship
    Phenotypes
    • Thrombocytopaenia, X-linked, MIM# 313900

    Green WAS in Phagocyte Defects


    Level 2: Immunological disorders
    Version 1.29

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neutropaenia, severe congenital, X-linked, MIM# 300299

    Red WAS in CGC_86


    Version 0.2

    review Other
    Sources
    • CGC_86
    Phenotypes
    • Thrombocytopenia, X-linked

    Red WAS in TCGA_PANCAN_2018


    Version 0.2

    review Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Thrombocytopenia, X-linked

    Green WAS in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Wiskott-Aldrich syndrome, 301000 (3)

    Green WAS in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Wiskott-Aldrich syndrome

    Green WAS in IBMDx study


    Version 0.25

    review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Thrombocytopenia, X-linked, MIM# 313900
    • Wiskott-Aldrich syndrome, MIM# 301000

    Green WAS in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Wiskott-Aldrich syndrome, 301000 (3)

    Green WAS in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Thrombocytopaenia, X-linked, MIM# 313900
    • Wiskott-Aldrich syndrome, MIM# 301000
    • Neutropenia, severe congenital, X-linked , MIM#300299
    Tags
    • treatable
    • haematological

    Green WAS in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Wiskott-Aldrich syndrome, MIM# 301000
    • Thrombocytopenia, X-linked, MIM# 313900

    Green WAS in Prepair 500+


    Level 2: Screening
    Version 1.1

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Wiskott-Aldrich syndrome, 301000 (3)