Wiskott-aldrich Syndrome 2; Was2

Clinical Features

Phenotypes and symptoms related to Wiskott-aldrich Syndrome 2; Was2

  • Recurrent infections
  • Thrombocytopenia
  • Eczema
  • Decreased proportion of CD8-positive T cells
  • Defective T cell proliferation
  • Reduced natural killer cell activity

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Wiskott-aldrich Syndrome 2; Was2 Is also known as wipf1 deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Wiskott-aldrich Syndrome 2; Was2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Inherited Neutropenia panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

TAZ, WAS, WIPF1, VPS45, HAX1, SBDS, LYST, VPS13B, CSF3R, G6PC3, CXCR4, USB1, LAMTOR2, ELANE, SLC37A4, GATA1, GATA2, GFI1, AP3B1, RAB27A , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Bone Marrow Failure Syndromes Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, RPL11, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1, NHP2, NOP10 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
Inherited Neutropenia Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

TAZ, WAS, WIPF1, VPS45, HAX1, LYST, VPS13B, CSF3R, G6PC3, CXCR4, USB1, LAMTOR2, ELANE, SLC37A4, GATA1, GATA2, GFI1, AP3B1, RAB27A, RAC2
Specificity
5 %
Genes
100 %
WIPF1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

WIPF1
Specificity
100 %
Genes
100 %
WIPF1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

WIPF1
Specificity
100 %
Genes
100 %
Wiskott-Aldrich syndrome (sequence analysis of WIPF1 gene).

By CGC Genetics (Portugal).

WIPF1
Specificity
100 %
Genes
100 %
Hereditary neutropenia (NGS panel for 22 genes).

By CGC Genetics (Portugal).

TAZ, WAS, WIPF1, VPS45, HAX1, SBDS, LYST, VPS13B, CSF3R, G6PC3, CXCR4, USB1, JAGN1, LAMTOR2, ELANE, SLC37A4, GATA1, GATA2, GFI1, AP3B1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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