WAS:Ensemblv115

WASP actin nucleation promoting factor
OMIM: 300392, ClinGen, DECIPHER

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green WAS in Vasculitis


Level 2: Immunological disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green WAS in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 2.0

2 reviews 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 Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

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

Red WAS in Cataract


Level 2: Ophthalmological disorders
Version 1.0

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

Green WAS in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green WAS in Predominantly Antibody Deficiency


Level 2: Immunological disorders
Version 2.0

2 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Green

Green WAS in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Australian Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Green
  • Expert Review Green
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 2.0

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

Green WAS in Phagocyte Defects


Level 2: Immunological disorders
Version 2.0

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

Green WAS in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

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

Green WAS in Additional findings_Paediatric


Level 2: Screening
Version 1.0

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

Green WAS in IBMDx study


Version 1.0

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

Green WAS in Prepair 1000+


Level 2: Screening
Version 3.0

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Neutropenia, severe congenital, X-linked, MIM#300299
  • Thrombocytopenia, X-linked, MIM#313900
  • Wiskott-Aldrich syndrome, MIM#301000

Green WAS in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

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

Green WAS in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews 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 Prepair 500+


Level 2: Screening
Version 3.0

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Mackenzie's Mission
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Neutropenia, severe congenital, X-linked, MIM#300299
  • Thrombocytopenia, X-linked, MIM#313900
  • Wiskott-Aldrich syndrome, MIM#301000