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Severe Paediatric Disorders

Gene: WAS

Green List (high evidence)

WAS (Wiskott-Aldrich syndrome)
EnsemblGeneIds (GRCh38): ENSG00000015285
EnsemblGeneIds (GRCh37): ENSG00000015285
OMIM: 300392, Gene2Phenotype
WAS is in 12 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: WAS; Recommended initial gene rating: Green List (high evidence); Phenotypes: Neutropenia, severe congenital, X-linked, 300299 (3) | Thrombocytopenia, X-linked, 313900 (3) | Thrombocytopenia, X-linked, intermittent, 313900 (3) | Wiskott-Aldrich syndrome, 301000 (3); Mode of inheritance: X-linked recessive | X-linked recessive | X-linked recessive | X-linked recessive
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Thrombocytopenia, X-linked, intermittent, 313900
  • Neutropenia, severe congenital, X-linked, 300299
  • Wiskott-Aldrich syndrome, 301000
  • Thrombocytopenia, X-linked, 313900
OMIM
300392
Clinvar variants
Variants in WAS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene WAS were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Thrombocytopenia, X-linked, intermittent, 313900; Neutropenia, severe congenital, X-linked, 300299; Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900 for gene: WAS

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Thrombocytopenia, X-linked, intermittent, 313900; Neutropenia, severe congenital, X-linked, 300299; Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900 for gene: WAS

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Thrombocytopenia, X-linked, intermittent, 313900; Neutropenia, severe congenital, X-linked, 300299; Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900 for gene: WAS

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, intermittent, 313900; Thrombocytopenia, X-linked, 313900; Neutropenia, severe congenital, X-linked, 300299 for gene: WAS

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene WAS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Thrombocytopenia, X-linked, intermittent, 313900; Neutropenia, severe congenital, X-linked, 300299; Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900 for gene: WAS

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to WAS.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to WAS. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: WAS was added gene: WAS was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: WAS was set to